메뉴 건너뛰기




Volumn 39, Issue 3, 2015, Pages 171-187

Current status of newborn screening worldwide: 2015

Author keywords

Inborn errors of metabolism; International screening; Newborn screening; Rare disease screening

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; ASIA; BANGLADESH; BLOOD ANALYSIS; CHINA; CONGENITAL HYPOTHYROIDISM; DRIED BLOOD SPOT TESTING; EDUCATION; EUROPE; GLOBOID CELL LEUKODYSTROPHY; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; GLYCOGEN STORAGE DISEASE TYPE 2; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; HUNTER SYNDROME; INBORN ERROR OF METABOLISM; INDIA; INDONESIA; INFANT MORTALITY; MAPLE SYRUP URINE DISEASE; MIDDLE EAST; MONGOLIA; MORBIDITY; NEW ZEALAND; NEWBORN SCREENING; NORTH AFRICA; NORTH AMERICA; PAKISTAN; PHILIPPINES; POINT OF CARE TESTING; PRIORITY JOURNAL; SCREENING TEST; SEVERE COMBINED IMMUNODEFICIENCY; SOUTH AND CENTRAL AMERICA; URINALYSIS; COOPERATION; GENETIC COUNSELING; HEALTH; HEALTH CARE DELIVERY; HEALTH CARE POLICY; LEGISLATION AND JURISPRUDENCE; NEWBORN; PARENTAL CONSENT; PILOT STUDY; PRACTICE GUIDELINE; PROCEDURES; PUBLIC HEALTH; STATISTICS AND NUMERICAL DATA; TRENDS;

EID: 84929668047     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2015.03.002     Document Type: Review
Times cited : (454)

References (177)
  • 1
    • 84929670903 scopus 로고    scopus 로고
    • Newborn dried bloodspot screening
    • Plural Publishing, Inc, San Diego, C.J. Driscoll, B. McPherson (Eds.)
    • Therrell B.L. Newborn dried bloodspot screening. Newborn Screening Systems-The Complete Perspective 2010, 133-156. Plural Publishing, Inc, San Diego. C.J. Driscoll, B. McPherson (Eds.).
    • (2010) Newborn Screening Systems-The Complete Perspective , pp. 133-156
    • Therrell, B.L.1
  • 2
    • 84929695605 scopus 로고    scopus 로고
    • Accessed 10.01.15.
    • Accessed 10.01.15. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html.
  • 3
    • 34548483425 scopus 로고    scopus 로고
    • Newborn screening in North America
    • Therrell B.L., Adams J. Newborn screening in North America. J Inherit Metab Dis 2007, 30:447-465.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 447-465
    • Therrell, B.L.1    Adams, J.2
  • 4
    • 34548488231 scopus 로고    scopus 로고
    • Neonatal screening in Europe: the situation in 2004
    • Loeber J.G. Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 2007, 30(4):430-438.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 430-438
    • Loeber, J.G.1
  • 6
    • 34548503622 scopus 로고    scopus 로고
    • Newborn screening in the Asia Pacific region
    • Padilla C.D., Therrell B.L. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 2007, 30(4):490-506.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 490-506
    • Padilla, C.D.1    Therrell, B.L.2
  • 7
    • 34548481991 scopus 로고    scopus 로고
    • Newborn screening in Latin America at the beginning of the 21st century
    • Borrajo G.J. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis 2007, 30(4):466-481.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 466-481
    • Borrajo, G.J.1
  • 8
    • 34548488230 scopus 로고    scopus 로고
    • Newborn screening: experiences in the Middle East and North Africa
    • Saadallah A.A., Rashed M.S. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis 2007, 30(4):482-489.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 482-489
    • Saadallah, A.A.1    Rashed, M.S.2
  • 9
    • 34548502216 scopus 로고    scopus 로고
    • Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg
    • Lindner M., Abdoh G., Fang-Hoffman J., et al. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis 2007, 30(4):522-529.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 522-529
    • Lindner, M.1    Abdoh, G.2    Fang-Hoffman, J.3
  • 10
    • 77649154796 scopus 로고    scopus 로고
    • The evolution of early hearing detection and intervention programs in the United States
    • White K.R., Forsman I., Eichwald J., Munoz K. The evolution of early hearing detection and intervention programs in the United States. Semin Perinatol 2010, 34(2):170-179.
    • (2010) Semin Perinatol , vol.34 , Issue.2 , pp. 170-179
    • White, K.R.1    Forsman, I.2    Eichwald, J.3    Munoz, K.4
  • 11
    • 84929664265 scopus 로고    scopus 로고
    • Detection of critical congenital heart defects: review of contributions from prenatal and newborn screening
    • [this issue]
    • Olney R.S., Ailes E.C., Sontag M.K. Detection of critical congenital heart defects: review of contributions from prenatal and newborn screening. Semin Perinatol 2015, 39(4). [this issue].
    • (2015) Semin Perinatol , vol.39 , Issue.4
    • Olney, R.S.1    Ailes, E.C.2    Sontag, M.K.3
  • 13
    • 84929695606 scopus 로고    scopus 로고
    • Review article on congenital hypothyroidism and newborn screening program in Africa; the present situation and the way forward
    • Adeniran K.A., Limbe M. Review article on congenital hypothyroidism and newborn screening program in Africa; the present situation and the way forward. J Thyroid Disord Ther 2012, http://omicsgroup.org/journals/2167-7948/2167-7948-1-102.php?aid=4617%23.
    • (2012) J Thyroid Disord Ther
    • Adeniran, K.A.1    Limbe, M.2
  • 14
    • 50249086309 scopus 로고    scopus 로고
    • Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies
    • Tshilolo L., Kafando E., Sawadogo M., et al. Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies. Public Health 2008, 122(9):933-941.
    • (2008) Public Health , vol.122 , Issue.9 , pp. 933-941
    • Tshilolo, L.1    Kafando, E.2    Sawadogo, M.3
  • 15
    • 34848889949 scopus 로고    scopus 로고
    • Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test
    • Mutesa L., Boemer F., Ngendahayo L., et al. Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test. J Med Screen 2007, 14(3):113-116.
    • (2007) J Med Screen , vol.14 , Issue.3 , pp. 113-116
    • Mutesa, L.1    Boemer, F.2    Ngendahayo, L.3
  • 16
    • 51249095001 scopus 로고    scopus 로고
    • Screening newborns for sickle cell disease in Ghana
    • Ohene-Frempong K., Oduro J., Tetteh H., Nkrumah F. Screening newborns for sickle cell disease in Ghana. Pediatrics 2008, 121:S120-S121.
    • (2008) Pediatrics , vol.121 , pp. S120-S121
    • Ohene-Frempong, K.1    Oduro, J.2    Tetteh, H.3    Nkrumah, F.4
  • 17
    • 84925243688 scopus 로고    scopus 로고
    • Using formative research to develop a counselor training program for newborn screening in Ghana
    • Treadwell M.J., Anie K.A., Grant A.M., Ofori-Acquah S.F., Ohene-Frempong K.J. Using formative research to develop a counselor training program for newborn screening in Ghana. Genet Couns 2015, 24(2):267-277.
    • (2015) Genet Couns , vol.24 , Issue.2 , pp. 267-277
    • Treadwell, M.J.1    Anie, K.A.2    Grant, A.M.3    Ofori-Acquah, S.F.4    Ohene-Frempong, K.J.5
  • 18
    • 77957884269 scopus 로고    scopus 로고
    • Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism
    • Adeniran K.A., Okolo A.A., Onyiriuka A.N. Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism. J Trop Pediatr 2010, 56(5):329-332.
    • (2010) J Trop Pediatr , vol.56 , Issue.5 , pp. 329-332
    • Adeniran, K.A.1    Okolo, A.A.2    Onyiriuka, A.N.3
  • 19
    • 84920984889 scopus 로고    scopus 로고
    • Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under-five mortality
    • Makani J., Soka D., Rwezaula S., et al. Health policy for sickle cell disease in Africa: experience from Tanzania on interventions to reduce under-five mortality. Trop Med Int Health 2015, 20(2):184-187.
    • (2015) Trop Med Int Health , vol.20 , Issue.2 , pp. 184-187
    • Makani, J.1    Soka, D.2    Rwezaula, S.3
  • 20
    • 84888028647 scopus 로고    scopus 로고
    • A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola
    • McGann P.T., Ferris M.G., Ramamurthy U., et al. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola. Am J Hematol 2013, 88(12):984-989.
    • (2013) Am J Hematol , vol.88 , Issue.12 , pp. 984-989
    • McGann, P.T.1    Ferris, M.G.2    Ramamurthy, U.3
  • 21
    • 0034338384 scopus 로고    scopus 로고
    • Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia
    • Feleke Y., Enquoselassie F., Deneke F., et al. Neonatal congenital hypothyroidism screening in Addis Ababa, Ethiopia. East Afr Med J 2000, 77(7):377-381.
    • (2000) East Afr Med J , vol.77 , Issue.7 , pp. 377-381
    • Feleke, Y.1    Enquoselassie, F.2    Deneke, F.3
  • 22
    • 58349117668 scopus 로고    scopus 로고
    • Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31,204 newborns
    • Tshilolo L., Aissi L.M., Lukusa D., et al. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31,204 newborns. J Clin Pathol 2009, 62(1):35-38.
    • (2009) J Clin Pathol , vol.62 , Issue.1 , pp. 35-38
    • Tshilolo, L.1    Aissi, L.M.2    Lukusa, D.3
  • 23
    • 77953460037 scopus 로고    scopus 로고
    • Newborn screening for classic galactosemia and primary congenital hypothyroidism in the Nkangala district of the Mpumalanga province of South Africa
    • Lebea P.J., Pretorius P.J. Newborn screening for classic galactosemia and primary congenital hypothyroidism in the Nkangala district of the Mpumalanga province of South Africa. S Afr J Child Health 2008, 2(1):19-22.
    • (2008) S Afr J Child Health , vol.2 , Issue.1 , pp. 19-22
    • Lebea, P.J.1    Pretorius, P.J.2
  • 25
    • 63449130300 scopus 로고    scopus 로고
    • Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment
    • Morales A., Wierenga A., Cuthbert C., et al. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genet Med 2009, 11(3):169-175.
    • (2009) Genet Med , vol.11 , Issue.3 , pp. 169-175
    • Morales, A.1    Wierenga, A.2    Cuthbert, C.3
  • 26
    • 0033844765 scopus 로고    scopus 로고
    • Serving the family from birth to the medical home. Newborn screening: a blueprint for the future
    • Newborn Screening Task Force, American Academy of Pediatrics Serving the family from birth to the medical home. Newborn screening: a blueprint for the future. Pediatrics 2000, 106(suppl):S383-S427.
    • (2000) Pediatrics , vol.106 , pp. S383-S427
  • 27
    • 84929695607 scopus 로고    scopus 로고
    • Public Law 110-204. Newborn screening saves lives Act of 2008. Accessed 26.12.14.
    • Public Law 110-204. Newborn screening saves lives Act of 2008. Accessed 26.12.14. https://www.govtrack.us/congress/bills/110/s1858/text.
  • 28
    • 84929695608 scopus 로고    scopus 로고
    • Public Law 113-240. Newborn screening saves lives reauthorization Act of 2014. Accessed 26.12.14.
    • Public Law 113-240. Newborn screening saves lives reauthorization Act of 2014. Accessed 26.12.14. https://www.govtrack.us/congress/bills/113/hr1281/text.
  • 29
    • 84929695609 scopus 로고    scopus 로고
    • Accessed 26.12.14.
    • Accessed 26.12.14. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/index.html.
  • 30
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: toward a uniform screening panel and system
    • American College of Medical Genetics, Newborn Screening Expert Group Newborn screening: toward a uniform screening panel and system. Genet Med 2006, 8(suppl 1):1S-252S.
    • (2006) Genet Med , vol.8 , pp. 1S-252S
  • 31
    • 84898404302 scopus 로고    scopus 로고
    • Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children
    • Kemper A.R., Green N.S., Calonge N., et al. Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 2014, 16(2):183-187.
    • (2014) Genet Med , vol.16 , Issue.2 , pp. 183-187
    • Kemper, A.R.1    Green, N.S.2    Calonge, N.3
  • 32
    • 84929695610 scopus 로고    scopus 로고
    • Accessed 26.12.14.
    • Accessed 26.12.14. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html.
  • 33
    • 84929707133 scopus 로고    scopus 로고
    • History and current status of newborn screening for severe combined immunodeficiency
    • Kwan A., Puck J. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol 2015, 39(4).
    • (2015) Semin Perinatol , vol.39 , Issue.4
    • Kwan, A.1    Puck, J.2
  • 34
    • 84862249006 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011)
    • Verbsky J.W., Baker M.W., Grossman W.J., et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol 2012, 32(1):82-88.
    • (2012) J Clin Immunol , vol.32 , Issue.1 , pp. 82-88
    • Verbsky, J.W.1    Baker, M.W.2    Grossman, W.J.3
  • 35
    • 84882791221 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years
    • Kwan A., Church J.A., Cowan M.J., et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 2013, 132(1):140-150.
    • (2013) J Allergy Clin Immunol , vol.132 , Issue.1 , pp. 140-150
    • Kwan, A.1    Church, J.A.2    Cowan, M.J.3
  • 36
    • 84898057637 scopus 로고    scopus 로고
    • Newborn screening for SCID in New York State: experience from the first two years
    • Vogel B.H., Bonagura V., Weinberg G.A., et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014, 34(3):289-303.
    • (2014) J Clin Immunol , vol.34 , Issue.3 , pp. 289-303
    • Vogel, B.H.1    Bonagura, V.2    Weinberg, G.A.3
  • 37
    • 84906543118 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
    • Kwan A., Abraham R.S., Currier R., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. J Am Med Assoc. 20 2014, 312(7):729-738.
    • (2014) J Am Med Assoc. 20 , vol.312 , Issue.7 , pp. 729-738
    • Kwan, A.1    Abraham, R.S.2    Currier, R.3
  • 38
    • 84875193558 scopus 로고    scopus 로고
    • Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC)
    • Therrell B.L., Colleen W.U., Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children, et al. Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). Genet Med 2013, 15(3):229-233.
    • (2013) Genet Med , vol.15 , Issue.3 , pp. 229-233
    • Therrell, B.L.1    Colleen, W.U.2
  • 39
    • 62349139085 scopus 로고    scopus 로고
    • Newborn screening for Krabbe disease: the New York State model
    • [discussion 253-255]
    • Duffner P.K., Caggana M., Orsini J.J., et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009, 40(4):245-252. [discussion 253-255].
    • (2009) Pediatr Neurol , vol.40 , Issue.4 , pp. 245-252
    • Duffner, P.K.1    Caggana, M.2    Orsini, J.J.3
  • 40
    • 84880913800 scopus 로고    scopus 로고
    • Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders
    • De Jesús V.R., Zhou H., Vogt R.F. Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders. Clin Chem 2013, 59(8):1275-1276.
    • (2013) Clin Chem , vol.59 , Issue.8 , pp. 1275-1276
    • De Jesús, V.R.1    Zhou, H.2    Vogt, R.F.3
  • 41
    • 84929702133 scopus 로고    scopus 로고
    • Newborn screening for lysosomal storage diseases
    • Matern D., Gavrilov D., Oglesbee D., et al. Newborn screening for lysosomal storage diseases. Semin Perinatol 2015, 39(4).
    • (2015) Semin Perinatol , vol.39 , Issue.4
    • Matern, D.1    Gavrilov, D.2    Oglesbee, D.3
  • 42
    • 84922115314 scopus 로고    scopus 로고
    • Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri
    • Hopkins P.V., Campbell C., Klug T., et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr 2015, 166(1):172-177.
    • (2015) J Pediatr , vol.166 , Issue.1 , pp. 172-177
    • Hopkins, P.V.1    Campbell, C.2    Klug, T.3
  • 43
    • 67349206087 scopus 로고    scopus 로고
    • Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method
    • Hubbard W.C., Moser A.B., Liu A.C., et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab 2009, 97(3):212-220.
    • (2009) Mol Genet Metab , vol.97 , Issue.3 , pp. 212-220
    • Hubbard, W.C.1    Moser, A.B.2    Liu, A.C.3
  • 44
    • 84891825729 scopus 로고    scopus 로고
    • Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible
    • Theda C., Gibbons K., Defor T.E., et al. Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible. Mol Genet Metab 2014, 111(1):55-57.
    • (2014) Mol Genet Metab , vol.111 , Issue.1 , pp. 55-57
    • Theda, C.1    Gibbons, K.2    Defor, T.E.3
  • 45
    • 84920401849 scopus 로고    scopus 로고
    • Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
    • Turgeon C.T., Moser A.B., Mørkrid L., et al. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab 2015, 114(1):46-50.
    • (2015) Mol Genet Metab , vol.114 , Issue.1 , pp. 46-50
    • Turgeon, C.T.1    Moser, A.B.2    Mørkrid, L.3
  • 46
    • 84920287496 scopus 로고    scopus 로고
    • The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening
    • Haynes C.A., De Jesús V.R. The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening. Clin Biochem 2015, 48(1-2):8-10.
    • (2015) Clin Biochem , vol.48 , Issue.1-2 , pp. 8-10
    • Haynes, C.A.1    De Jesús, V.R.2
  • 48
    • 84921871661 scopus 로고    scopus 로고
    • Newborn bloodspot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency
    • Taylor J.L., Lee F.K., Yazdanpanah G.K., et al. Newborn bloodspot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clin Chem 2015, 61(2):412-419.
    • (2015) Clin Chem , vol.61 , Issue.2 , pp. 412-419
    • Taylor, J.L.1    Lee, F.K.2    Yazdanpanah, G.K.3
  • 49
    • 84861657244 scopus 로고    scopus 로고
    • Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    • Dobrowolski S.F., Pham H.T., Downes F.P., et al. Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin Chem 2012, 58(6):1033-1039.
    • (2012) Clin Chem , vol.58 , Issue.6 , pp. 1033-1039
    • Dobrowolski, S.F.1    Pham, H.T.2    Downes, F.P.3
  • 50
    • 35648932393 scopus 로고    scopus 로고
    • Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy
    • Pyatt R.E., Mihal D.C., Prior T.W. Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy. Clin Chem 2007, 53(11):1879-1885.
    • (2007) Clin Chem , vol.53 , Issue.11 , pp. 1879-1885
    • Pyatt, R.E.1    Mihal, D.C.2    Prior, T.W.3
  • 51
    • 84900025905 scopus 로고    scopus 로고
    • Population screening for Wilson's disease
    • Hahn S.H. Population screening for Wilson's disease. Ann N Y Acad Sci 2014, 1315:64-69.
    • (2014) Ann N Y Acad Sci , vol.1315 , pp. 64-69
    • Hahn, S.H.1
  • 52
    • 84894476814 scopus 로고    scopus 로고
    • Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
    • Pasquali M., Schwarz E., Jensen M., et al. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis 2014, 37(2):231-236.
    • (2014) J Inherit Metab Dis , vol.37 , Issue.2 , pp. 231-236
    • Pasquali, M.1    Schwarz, E.2    Jensen, M.3
  • 53
    • 84856526717 scopus 로고    scopus 로고
    • Newborn dried blood spot screening: residual specimen storage issues
    • Therrell B.L., Hannon W.H. Newborn dried blood spot screening: residual specimen storage issues. Pediatrics 2012, 129(2):365-366.
    • (2012) Pediatrics , vol.129 , Issue.2 , pp. 365-366
    • Therrell, B.L.1    Hannon, W.H.2
  • 54
    • 84887377522 scopus 로고    scopus 로고
    • Newborn screening: from Guthrie to whole genome sequencing
    • Caggana M., Jones E.A., Shahied S.I., et al. Newborn screening: from Guthrie to whole genome sequencing. Public Health Rep 2013, 128(suppl 2):S14-S19.
    • (2013) Public Health Rep , vol.128 , pp. S14-S19
    • Caggana, M.1    Jones, E.A.2    Shahied, S.I.3
  • 55
    • 79953298338 scopus 로고    scopus 로고
    • Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots
    • Rothwell E.W., Anderson R.A., Burbank M.J., et al. Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots. Am J Public Health 2011, 101(11):2111-2116.
    • (2011) Am J Public Health , vol.101 , Issue.11 , pp. 2111-2116
    • Rothwell, E.W.1    Anderson, R.A.2    Burbank, M.J.3
  • 56
    • 79960841778 scopus 로고    scopus 로고
    • Committee Report: considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening
    • Therrell B.L., Hannon W.H., Bailey D.B., et al. Committee Report: considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genet Med 2011, 13(7):621-624.
    • (2011) Genet Med , vol.13 , Issue.7 , pp. 621-624
    • Therrell, B.L.1    Hannon, W.H.2    Bailey, D.B.3
  • 57
    • 84863393820 scopus 로고    scopus 로고
    • Public attitudes regarding the use of residual newborn screening specimens for research
    • Botkin J.R., Rothwell E., Anderson R., et al. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics 2012, 129(2):231-238.
    • (2012) Pediatrics , vol.129 , Issue.2 , pp. 231-238
    • Botkin, J.R.1    Rothwell, E.2    Anderson, R.3
  • 58
    • 84856547266 scopus 로고    scopus 로고
    • Citizens' values regarding research with stored samples from newborn screening in Canada
    • Bombard Y., Miller F.A., Hayeems R.Z., et al. Citizens' values regarding research with stored samples from newborn screening in Canada. Pediatrics 2012, 129(2):239-247.
    • (2012) Pediatrics , vol.129 , Issue.2 , pp. 239-247
    • Bombard, Y.1    Miller, F.A.2    Hayeems, R.Z.3
  • 59
    • 84883481145 scopus 로고    scopus 로고
    • From newborn screening to population health research: implementation of the Michigan BioTrust for health
    • Langbo C., Bach J., Kleyn M., Downes F.P. From newborn screening to population health research: implementation of the Michigan BioTrust for health. Public Health Rep 2013, 128(5):377-384.
    • (2013) Public Health Rep , vol.128 , Issue.5 , pp. 377-384
    • Langbo, C.1    Bach, J.2    Kleyn, M.3    Downes, F.P.4
  • 60
    • 84893316060 scopus 로고    scopus 로고
    • Parental permission for pilot newborn screening research: guidelines from the NBSTRN
    • Botkin J.R., Lewis M.H., Watson M.S., et al. Parental permission for pilot newborn screening research: guidelines from the NBSTRN. Pediatrics 2014, 133(2):e410-e417.
    • (2014) Pediatrics , vol.133 , Issue.2 , pp. e410-e417
    • Botkin, J.R.1    Lewis, M.H.2    Watson, M.S.3
  • 61
    • 84929695611 scopus 로고    scopus 로고
    • Accessed 09.01.15.
    • Accessed 09.01.15. http://www.ccmg-ccgm.org/index.php/publications/practice-guidelines-position-statements-and-reports.html.
  • 62
    • 84887324492 scopus 로고    scopus 로고
    • Ontario newborns now screened for SCID
    • Cross C. Ontario newborns now screened for SCID. CMAJ 2013, 185(13):E616.
    • (2013) CMAJ , vol.185 , Issue.13
    • Cross, C.1
  • 63
    • 84867896682 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease
    • Mercimek-Mahmutoglu S., Sinclair G., van Dooren S.J., et al. Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. Mol Genet Metab 2012, 107(3):433-437.
    • (2012) Mol Genet Metab , vol.107 , Issue.3 , pp. 433-437
    • Mercimek-Mahmutoglu, S.1    Sinclair, G.2    van Dooren, S.J.3
  • 64
    • 34548498128 scopus 로고    scopus 로고
    • Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules
    • Auray-Blais C., Cyr D., Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. J Inherit Metab Dis 2007, 30:515-521.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 515-521
    • Auray-Blais, C.1    Cyr, D.2    Drouin, R.3
  • 65
    • 84903388614 scopus 로고    scopus 로고
    • High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
    • Auray-Blais C., Maranda B., Lavoie P. High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency. Clin Chim Acta 2014, 25(436):249-255.
    • (2014) Clin Chim Acta , vol.25 , Issue.436 , pp. 249-255
    • Auray-Blais, C.1    Maranda, B.2    Lavoie, P.3
  • 66
    • 78650243775 scopus 로고    scopus 로고
    • Acquiring genome-wide gene expression profiles in Guthrie card blood spots using microarrays
    • Khoo S.K., Dykema K., Vadlapatla N.M., et al. Acquiring genome-wide gene expression profiles in Guthrie card blood spots using microarrays. Pathol Int 2011, 61(1):1-6.
    • (2011) Pathol Int , vol.61 , Issue.1 , pp. 1-6
    • Khoo, S.K.1    Dykema, K.2    Vadlapatla, N.M.3
  • 67
    • 84908550914 scopus 로고    scopus 로고
    • Public views on participating in newborn screening using genome sequencing
    • Bombard Y., Miller F.A., Hayeems R.Z., et al. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet 2014, 22(11):1248-1254.
    • (2014) Eur J Hum Genet , vol.22 , Issue.11 , pp. 1248-1254
    • Bombard, Y.1    Miller, F.A.2    Hayeems, R.Z.3
  • 68
  • 69
    • 62949122567 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience
    • Tahirovic H., Toromanovic A. Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. Eur J Pediatr 2009, 168(5):629-631.
    • (2009) Eur J Pediatr , vol.168 , Issue.5 , pp. 629-631
    • Tahirovic, H.1    Toromanovic, A.2
  • 70
    • 84892474638 scopus 로고    scopus 로고
    • The development and organization of newborn screening programs in Turkey
    • Tezel B., Dilli D., Bolat H., et al. The development and organization of newborn screening programs in Turkey. J Clin Lab Anal 2014, 28(1):63-69.
    • (2014) J Clin Lab Anal , vol.28 , Issue.1 , pp. 63-69
    • Tezel, B.1    Dilli, D.2    Bolat, H.3
  • 71
    • 84863882527 scopus 로고    scopus 로고
    • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result
    • Loeber J.G., Burgard P., Cornel M.C., et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inher Metab Dis 2012, 35:603-611.
    • (2012) J Inher Metab Dis , vol.35 , pp. 603-611
    • Loeber, J.G.1    Burgard, P.2    Cornel, M.C.3
  • 72
    • 84863865258 scopus 로고    scopus 로고
    • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2-From screening laboratory results to treatment, follow-up and quality assurance
    • Burgard P., Rupp K., Lindner M., et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2-From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 2012, 35:613-625.
    • (2012) J Inherit Metab Dis , vol.35 , pp. 613-625
    • Burgard, P.1    Rupp, K.2    Lindner, M.3
  • 73
    • 84890797723 scopus 로고    scopus 로고
    • Expert Opinion document Newborn screening in Europe. A framework to start the debate on neonatal screening policies in the EU
    • Cornel M.C., Rigter T., Weinreich S.S., et al. Expert Opinion document Newborn screening in Europe. A framework to start the debate on neonatal screening policies in the EU. Eur J Hum Genet 2014, 22:12-17.
    • (2014) Eur J Hum Genet , vol.22 , pp. 12-17
    • Cornel, M.C.1    Rigter, T.2    Weinreich, S.S.3
  • 74
    • 84908412566 scopus 로고    scopus 로고
    • Newborn screening in southeastern Europe
    • Groselj U., Tansek M.Z., Smon A., et al. Newborn screening in southeastern Europe. Mol Genet Metab 2014, 113(1-2):42-45.
    • (2014) Mol Genet Metab , vol.113 , Issue.1-2 , pp. 42-45
    • Groselj, U.1    Tansek, M.Z.2    Smon, A.3
  • 75
    • 84875808618 scopus 로고    scopus 로고
    • Europe plays catch-up on neonatal screening as US skips ahead
    • Holmes D. Europe plays catch-up on neonatal screening as US skips ahead. Nat Med 2012, 18(11):1596.
    • (2012) Nat Med , vol.18 , Issue.11 , pp. 1596
    • Holmes, D.1
  • 76
    • 67349143664 scopus 로고    scopus 로고
    • European best practice guidelines for cystic fibrosis neonatal screening
    • Castellani C., Southern K.W., Brownlee K., et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009, 8(3):153-173.
    • (2009) J Cyst Fibros , vol.8 , Issue.3 , pp. 153-173
    • Castellani, C.1    Southern, K.W.2    Brownlee, K.3
  • 77
    • 77956905085 scopus 로고    scopus 로고
    • Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening
    • Sermet-Gaudelus S.J., Mayell K.W., et al. Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. J Cyst Fibros 2010, 9:323-329.
    • (2010) J Cyst Fibros , vol.9 , pp. 323-329
    • Sermet-Gaudelus, S.J.1    Mayell, K.W.2
  • 78
    • 57649155710 scopus 로고    scopus 로고
    • A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
    • Mayell S.J., Munck A., Craig J.V., et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009, 8(1):71-78.
    • (2009) J Cyst Fibros , vol.8 , Issue.1 , pp. 71-78
    • Mayell, S.J.1    Munck, A.2    Craig, J.V.3
  • 79
    • 84893811033 scopus 로고    scopus 로고
    • European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
    • Léger J., Olivieri A., Donaldson M., et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014, 99(2):363-384.
    • (2014) J Clin Endocrinol Metab , vol.99 , Issue.2 , pp. 363-384
    • Léger, J.1    Olivieri, A.2    Donaldson, M.3
  • 80
    • 84901022662 scopus 로고    scopus 로고
    • Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe
    • Fischer K.E., Rogowski W.H. Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe. Int J Environ Res Public Health 2014, 11(5):5403-5430.
    • (2014) Int J Environ Res Public Health , vol.11 , Issue.5 , pp. 5403-5430
    • Fischer, K.E.1    Rogowski, W.H.2
  • 81
    • 84923915375 scopus 로고    scopus 로고
    • U.S. international efforts on critical congenital heart disease screening: can we have a uniform recommendation for Europe?
    • Hom L.A., Martin G.R. U.S. international efforts on critical congenital heart disease screening: can we have a uniform recommendation for Europe?. Early Hum Dev 2014, 90(suppl 2):S11-S14.
    • (2014) Early Hum Dev , vol.90 , pp. S11-S14
    • Hom, L.A.1    Martin, G.R.2
  • 82
    • 84863313265 scopus 로고    scopus 로고
    • Common criteria among States for storage and use of dried blood spot specimens after newborn screening
    • Petrini C., Olivieri A., Corbetta C., et al. Common criteria among States for storage and use of dried blood spot specimens after newborn screening. Ann Ist Super Sanita 2012, 48(2):119-121.
    • (2012) Ann Ist Super Sanita , vol.48 , Issue.2 , pp. 119-121
    • Petrini, C.1    Olivieri, A.2    Corbetta, C.3
  • 83
    • 84866459264 scopus 로고    scopus 로고
    • Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking
    • Douglas C.M., van El C.G., Faulkner A., Cornel M.C. Governing biological material at the intersection of care and research: the use of dried blood spots for biobanking. Croat Med J 2012, 53(4):390-397.
    • (2012) Croat Med J , vol.53 , Issue.4 , pp. 390-397
    • Douglas, C.M.1    van El, C.G.2    Faulkner, A.3    Cornel, M.C.4
  • 84
    • 73249118118 scopus 로고    scopus 로고
    • Quantitation of RNA decay in dried blood spots during 20 years of storage
    • Gauffin F., Nordgren A., Barbany G., Gustafsson B., Karlsson H. Quantitation of RNA decay in dried blood spots during 20 years of storage. Clin Chem Lab Med 2009, 47(12):1467-1469.
    • (2009) Clin Chem Lab Med , vol.47 , Issue.12 , pp. 1467-1469
    • Gauffin, F.1    Nordgren, A.2    Barbany, G.3    Gustafsson, B.4    Karlsson, H.5
  • 86
    • 84870523716 scopus 로고    scopus 로고
    • Informed choice for newborn blood spot screening in the United Kingdom: a survey of parental perceptions
    • Nicholls S.G., Southern K.W. Informed choice for newborn blood spot screening in the United Kingdom: a survey of parental perceptions. Pediatrics 2012, 130(6):e1527-e1533.
    • (2012) Pediatrics , vol.130 , Issue.6 , pp. e1527-e1533
    • Nicholls, S.G.1    Southern, K.W.2
  • 87
    • 84883792330 scopus 로고    scopus 로고
    • Guthrie cards in Republic of Ireland. Irish public would prefer legislation to protect Guthrie card archive rather than destroy it
    • Allen J., McCarthy P., Dempsey E.M., Hourihane J.O. Guthrie cards in Republic of Ireland. Irish public would prefer legislation to protect Guthrie card archive rather than destroy it. Br Med J 2013, 347:f5232.
    • (2013) Br Med J , vol.347
    • Allen, J.1    McCarthy, P.2    Dempsey, E.M.3    Hourihane, J.O.4
  • 88
    • 84856368463 scopus 로고    scopus 로고
    • Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
    • Mechtler T.P., Stary S., Metz T.F., et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012, 379(9813):335-341.
    • (2012) Lancet , vol.379 , Issue.9813 , pp. 335-341
    • Mechtler, T.P.1    Stary, S.2    Metz, T.F.3
  • 89
    • 84864819731 scopus 로고    scopus 로고
    • First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene
    • Paciotti S., Persichetti E., Pagliardini S., et al. First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene. Clin Chim Acta 2012, 413(23-24):1827-1831.
    • (2012) Clin Chim Acta , vol.413 , Issue.23-24 , pp. 1827-1831
    • Paciotti, S.1    Persichetti, E.2    Pagliardini, S.3
  • 90
    • 84867896871 scopus 로고    scopus 로고
    • Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening
    • Rigter T., Weinreich S.S., van El C.G., et al. Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Mol Genet Metab 2012, 107(3):448-455.
    • (2012) Mol Genet Metab , vol.107 , Issue.3 , pp. 448-455
    • Rigter, T.1    Weinreich, S.S.2    van El, C.G.3
  • 91
    • 84891899409 scopus 로고    scopus 로고
    • Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study
    • Audrain M., Thomas C., Mirallie S., et al. Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study. Clin Immunol 2014, 150(2):137-139.
    • (2014) Clin Immunol , vol.150 , Issue.2 , pp. 137-139
    • Audrain, M.1    Thomas, C.2    Mirallie, S.3
  • 92
    • 84898056922 scopus 로고    scopus 로고
    • Screening of neonatal UK dried blood spots using a duplex TREC screening assay
    • Adams S.P., Rashid S., Premachandra T., et al. Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol 2014, 34(3):323-330.
    • (2014) J Clin Immunol , vol.34 , Issue.3 , pp. 323-330
    • Adams, S.P.1    Rashid, S.2    Premachandra, T.3
  • 93
    • 84930061753 scopus 로고    scopus 로고
    • A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia
    • [article in Spanish]
    • Olbrich P., de Felipe B., Delgado-Pecellin C., et al. A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia. An Pediatr (Barc) 2014, 81(5):310-317. [article in Spanish].
    • (2014) An Pediatr (Barc) , vol.81 , Issue.5 , pp. 310-317
    • Olbrich, P.1    de Felipe, B.2    Delgado-Pecellin, C.3
  • 94
    • 84884557504 scopus 로고    scopus 로고
    • The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
    • la Marca G., Giocaliere E., Malvagia S., et al. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry. J Pharm Biomed Anal 2014, 88:201-206.
    • (2014) J Pharm Biomed Anal , vol.88 , pp. 201-206
    • la Marca, G.1    Giocaliere, E.2    Malvagia, S.3
  • 95
    • 38449112711 scopus 로고    scopus 로고
    • Tackling rare diseases at European level: why do we need a harmonized framework?
    • Tauriscio D., Trama A., Stefanov R. Tackling rare diseases at European level: why do we need a harmonized framework?. Folia Med (Plovdiv) 2007, 49(1-2):59-67.
    • (2007) Folia Med (Plovdiv) , vol.49 , Issue.1-2 , pp. 59-67
    • Tauriscio, D.1    Trama, A.2    Stefanov, R.3
  • 96
    • 84929662089 scopus 로고    scopus 로고
    • Newborn screening in the Middle East and North Africa-challenges and recommendations
    • Shawky R.M. Newborn screening in the Middle East and North Africa-challenges and recommendations. Hamdan Med J 2012, 5(3):191-192.
    • (2012) Hamdan Med J , vol.5 , Issue.3 , pp. 191-192
    • Shawky, R.M.1
  • 97
    • 70349673731 scopus 로고    scopus 로고
    • Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities
    • Krotoski D., Namaste S., Raouf R.K., et al. Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities. Genet Med 2009, 11:663-668.
    • (2009) Genet Med , vol.11 , pp. 663-668
    • Krotoski, D.1    Namaste, S.2    Raouf, R.K.3
  • 98
    • 34548513283 scopus 로고    scopus 로고
    • Training programmes for developing countries
    • Solanki K.K. Training programmes for developing countries. J Inherit Metab Dis 2007, 30:596-599.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 596-599
    • Solanki, K.K.1
  • 99
    • 34548499875 scopus 로고    scopus 로고
    • An international training and support programme for the establishment of neonatal screening in developing countries
    • Fukushi M. An international training and support programme for the establishment of neonatal screening in developing countries. J Inherit Metab Dis 2007, 30(4):593-595.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 593-595
    • Fukushi, M.1
  • 100
    • 84929695612 scopus 로고    scopus 로고
    • Accessed 04.01.15.
    • Accessed 04.01.15. http://links.lww.com/GIM/A81.
  • 101
    • 84929695613 scopus 로고    scopus 로고
    • Accessed 04.01.15.
    • Accessed 04.01.15. http://www.evaluategroup.com/Universal/View.aspx?type=Story&id=139887.
  • 102
    • 84873933931 scopus 로고    scopus 로고
    • Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry?
    • Al-Alwani I., AlRowaeah A., Bawazeer M. Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry?. Ann Saudi Med 2012, 32(6):652-655.
    • (2012) Ann Saudi Med , vol.32 , Issue.6 , pp. 652-655
    • Al-Alwani, I.1    AlRowaeah, A.2    Bawazeer, M.3
  • 103
    • 84857963197 scopus 로고    scopus 로고
    • Evaluation of current Guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis
    • Shamshiri A.R., Yarahmadi S., Forouzanfar M.H., et al. Evaluation of current Guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis. Arch Iran Med 2012, 15(3):136-141.
    • (2012) Arch Iran Med , vol.15 , Issue.3 , pp. 136-141
    • Shamshiri, A.R.1    Yarahmadi, S.2    Forouzanfar, M.H.3
  • 104
    • 77950797971 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain
    • Golbahar J., Al-Khayyat H., Hassan B., et al. Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. J Pediatr Endocrinol Metab 2010, 23(1-2):39-44.
    • (2010) J Pediatr Endocrinol Metab , vol.23 , Issue.1-2 , pp. 39-44
    • Golbahar, J.1    Al-Khayyat, H.2    Hassan, B.3
  • 105
    • 84882915305 scopus 로고    scopus 로고
    • Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain
    • Golbahar J., Al-Jishi E.A., Altayab D.D., et al. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain. Mol Genet Metab 2013, 110(1-2):98-101.
    • (2013) Mol Genet Metab , vol.110 , Issue.1-2 , pp. 98-101
    • Golbahar, J.1    Al-Jishi, E.A.2    Altayab, D.D.3
  • 106
    • 84869211635 scopus 로고    scopus 로고
    • Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients
    • Al Riyami S., Al Maney M., Joshi S.N., Bayoumi R. Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients. Oman Med J 2012, 27(6):482-485.
    • (2012) Oman Med J , vol.27 , Issue.6 , pp. 482-485
    • Al Riyami, S.1    Al Maney, M.2    Joshi, S.N.3    Bayoumi, R.4
  • 107
    • 84907897140 scopus 로고    scopus 로고
    • Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya
    • Al Obaidy H. Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya. Qatar Med J 2013, 2013(2):57-65.
    • (2013) Qatar Med J , vol.2013 , Issue.2 , pp. 57-65
    • Al Obaidy, H.1
  • 108
    • 34147101125 scopus 로고    scopus 로고
    • Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants
    • Abdel-Hamid M., Tisocki K., Sharaf L., Ramadan D. Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti infants. Med Princ Pract 2007, 16(3):215-221.
    • (2007) Med Princ Pract , vol.16 , Issue.3 , pp. 215-221
    • Abdel-Hamid, M.1    Tisocki, K.2    Sharaf, L.3    Ramadan, D.4
  • 109
    • 82155177231 scopus 로고    scopus 로고
    • Sickle cell disease in Middle East Arab countries
    • El-Hazmi M.A., Al-Hazmi A.M., Warsy A.S. Sickle cell disease in Middle East Arab countries. Indian J Med Res 2011, 134(5):597-610.
    • (2011) Indian J Med Res , vol.134 , Issue.5 , pp. 597-610
    • El-Hazmi, M.A.1    Al-Hazmi, A.M.2    Warsy, A.S.3
  • 110
    • 77950495950 scopus 로고    scopus 로고
    • Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates
    • Alkindi S., Al Zadjali S., Al Madhani A., et al. Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates. Hemoglobin 2010, 34(2):135-144.
    • (2010) Hemoglobin , vol.34 , Issue.2 , pp. 135-144
    • Alkindi, S.1    Al Zadjali, S.2    Al Madhani, A.3
  • 111
    • 84886244817 scopus 로고    scopus 로고
    • Cost-utility analysis of neonatal screening program, Shiraz University of Medical Sciences, Shiraz, Iran, 2010
    • Hatam N., Shirvani S., Javanbakht M., Askarian M., Rastegar M. Cost-utility analysis of neonatal screening program, Shiraz University of Medical Sciences, Shiraz, Iran, 2010. Iran J Pediatr 2013, 23(5):493-500.
    • (2013) Iran J Pediatr , vol.23 , Issue.5 , pp. 493-500
    • Hatam, N.1    Shirvani, S.2    Javanbakht, M.3    Askarian, M.4    Rastegar, M.5
  • 112
    • 78049490990 scopus 로고    scopus 로고
    • Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya
    • Sladkevicius E., Pollitt R.J., Mgadmi A., Guest J.F. Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya. Appl Health Econ Health Policy 2010, 8(6):407-420.
    • (2010) Appl Health Econ Health Policy , vol.8 , Issue.6 , pp. 407-420
    • Sladkevicius, E.1    Pollitt, R.J.2    Mgadmi, A.3    Guest, J.F.4
  • 113
    • 83355176476 scopus 로고    scopus 로고
    • Cost-benefit analysis of G6PD screening in Lebanese newborn males
    • Khneisser I., Adib S.M., Loiselet J., Megarbane A. Cost-benefit analysis of G6PD screening in Lebanese newborn males. J Med Liban 2007, 55(3):129-132.
    • (2007) J Med Liban , vol.55 , Issue.3 , pp. 129-132
    • Khneisser, I.1    Adib, S.M.2    Loiselet, J.3    Megarbane, A.4
  • 114
    • 84893661767 scopus 로고    scopus 로고
    • Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011
    • Al Hosani H., Salah M., Osman H.M., et al. Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. East Mediterr Health J 2014, 20(1):17-23.
    • (2014) East Mediterr Health J , vol.20 , Issue.1 , pp. 17-23
    • Al Hosani, H.1    Salah, M.2    Osman, H.M.3
  • 115
    • 84861084030 scopus 로고    scopus 로고
    • Newborn Screening Services in Bahrain between 1985 and 2010
    • Al Arrayed S., Al Hajeri A. Newborn Screening Services in Bahrain between 1985 and 2010. Adv Hematol 2012, 2012:903219.
    • (2012) Adv Hematol , vol.2012 , pp. 903219
    • Al Arrayed, S.1    Al Hajeri, A.2
  • 116
    • 84855612885 scopus 로고    scopus 로고
    • International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes
    • Khneisser I., Adib S.M., Megarbane A., Lukacs Z. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes. J Inherit Metab Dis 2008, 31(suppl 2):S441-S446.
    • (2008) J Inherit Metab Dis , vol.31 , pp. S441-S446
    • Khneisser, I.1    Adib, S.M.2    Megarbane, A.3    Lukacs, Z.4
  • 117
    • 34548502216 scopus 로고    scopus 로고
    • Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg
    • Lindner M., Abdoh G., Fang-Hoffmann J., et al. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis 2007, 30(4):522-529.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.4 , pp. 522-529
    • Lindner, M.1    Abdoh, G.2    Fang-Hoffmann, J.3
  • 118
    • 84881521551 scopus 로고    scopus 로고
    • Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study
    • Somech R., Lev A., Simon A.J., et al. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. Isr Med Assoc J 2013, 15(8):404-409.
    • (2013) Isr Med Assoc J , vol.15 , Issue.8 , pp. 404-409
    • Somech, R.1    Lev, A.2    Simon, A.J.3
  • 119
    • 84929662048 scopus 로고    scopus 로고
    • Overview of diagnosis, management and outcome of congenital hypothyroidism: a call for a national screening programme in Sudan
    • Babiker A.M.I., Al Jurayyan N.A., Mohamed S.H., Abdullah M.A. Overview of diagnosis, management and outcome of congenital hypothyroidism: a call for a national screening programme in Sudan. Sudanese J Pediatr 2012, 12(2):7-16.
    • (2012) Sudanese J Pediatr , vol.12 , Issue.2 , pp. 7-16
    • Babiker, A.M.I.1    Al Jurayyan, N.A.2    Mohamed, S.H.3    Abdullah, M.A.4
  • 120
    • 84880972632 scopus 로고    scopus 로고
    • High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota
    • Sarafoglou K., Bentler K., Gaviglio A., et al. High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. J Inherit Metab Dis 2009, 32(suppl 1):S169-S173.
    • (2009) J Inherit Metab Dis , vol.32 , pp. S169-S173
    • Sarafoglou, K.1    Bentler, K.2    Gaviglio, A.3
  • 122
    • 78651372360 scopus 로고    scopus 로고
    • Quantitative ultramicrotest for newborn screening of galactosemia in Cuba
    • Frómeta A., Reyes E.C., Castells E., et al. Quantitative ultramicrotest for newborn screening of galactosemia in Cuba. J Perinat Med 2011, 39(1):77-81.
    • (2011) J Perinat Med , vol.39 , Issue.1 , pp. 77-81
    • Frómeta, A.1    Reyes, E.C.2    Castells, E.3
  • 123
    • 60749092425 scopus 로고    scopus 로고
    • Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test
    • González E.C., Frómeta A., del Río L., et al. Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test. Clin Chim Acta 2009, 402(1-2):129-132.
    • (2009) Clin Chim Acta , vol.402 , Issue.1-2 , pp. 129-132
    • González, E.C.1    Frómeta, A.2    del Río, L.3
  • 124
    • 44649178558 scopus 로고    scopus 로고
    • An enzyme immunoassay for determining 17alpha-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system
    • González E.C., Marrero N., Pérez P.L., et al. An enzyme immunoassay for determining 17alpha-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system. Clin Chim Acta 2008, 394(1-2):63-66.
    • (2008) Clin Chim Acta , vol.394 , Issue.1-2 , pp. 63-66
    • González, E.C.1    Marrero, N.2    Pérez, P.L.3
  • 125
    • 84892865271 scopus 로고    scopus 로고
    • Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots
    • Campos D., Monaga M., González E.C., Herrera D. Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots. Clin Chim Acta 2014, 430:24-27.
    • (2014) Clin Chim Acta , vol.430 , pp. 24-27
    • Campos, D.1    Monaga, M.2    González, E.C.3    Herrera, D.4
  • 126
    • 84876988613 scopus 로고    scopus 로고
    • Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper
    • Herrera D., Monaga M., Campos D., et al. Ultramicro-fluorometric assay for the diagnosis of Gaucher disease in dried blood spots on filter paper. J Neonatal Perinatal Med 2013, 6(1):61-67.
    • (2013) J Neonatal Perinatal Med , vol.6 , Issue.1 , pp. 61-67
    • Herrera, D.1    Monaga, M.2    Campos, D.3
  • 127
    • 21044445379 scopus 로고    scopus 로고
    • Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica
    • de Céspedes C., Saborío M., Trejos R., et al. Evolution and innovations of the National Neonatal and High Risk Screening Program in Costa Rica. Rev Biol Trop 2004, 52(3):451-466.
    • (2004) Rev Biol Trop , vol.52 , Issue.3 , pp. 451-466
    • de Céspedes, C.1    Saborío, M.2    Trejos, R.3
  • 129
    • 84922280644 scopus 로고    scopus 로고
    • Panorama epidemiológico de la fenilcetonuria (PKU) en Latinoamérica
    • Borrajo G. Panorama epidemiológico de la fenilcetonuria (PKU) en Latinoamérica. Acta Pediatr Mex 2012, 33(6):279-287.
    • (2012) Acta Pediatr Mex , vol.33 , Issue.6 , pp. 279-287
    • Borrajo, G.1
  • 130
    • 84929695614 scopus 로고    scopus 로고
    • Pilot Programe for newborn screening using mass spectrometry in Uruguay
    • Queijo C., Machado M., Franca F., et al. Pilot Programe for newborn screening using mass spectrometry in Uruguay. Rev Invest Clín 2009, 61(suppl 1):90.
    • (2009) Rev Invest Clín , vol.61 , pp. 90
    • Queijo, C.1    Machado, M.2    Franca, F.3
  • 131
    • 84929695615 scopus 로고    scopus 로고
    • Newborn screening of medium-chain acyl-CoA dehydrogenase deficiency in Uruguay
    • Queijo C., Lemes A., Machado M., et al. Newborn screening of medium-chain acyl-CoA dehydrogenase deficiency in Uruguay. Acta Bioquím Clín Latinoam 2011, 45(1):87-93.
    • (2011) Acta Bioquím Clín Latinoam , vol.45 , Issue.1 , pp. 87-93
    • Queijo, C.1    Lemes, A.2    Machado, M.3
  • 132
    • 84929695616 scopus 로고    scopus 로고
    • Accessed 30.12.14.
    • Accessed 30.12.14. http://www.unisert.org.br/Informativo_PNTN_8%C2%AA_ed.pdf.
  • 133
    • 79955685819 scopus 로고    scopus 로고
    • The successful "Guthrie test" celebrates its 10th birthday in Brazil!
    • Lopes M.E. The successful "Guthrie test" celebrates its 10th birthday in Brazil!. Cien Saude Colet 2011, 16(suppl 1):716-717.
    • (2011) Cien Saude Colet , vol.16 , pp. 716-717
    • Lopes, M.E.1
  • 134
    • 84878066701 scopus 로고    scopus 로고
    • Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism
    • Maciel L.M., Kimura E.T., Nogueira C.R., et al. Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. Arq Bras Endocrinol Metabol 2013, 57(3):184-192.
    • (2013) Arq Bras Endocrinol Metabol , vol.57 , Issue.3 , pp. 184-192
    • Maciel, L.M.1    Kimura, E.T.2    Nogueira, C.R.3
  • 135
    • 84874520958 scopus 로고    scopus 로고
    • Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa "Primeiros Passos"-IEDE/RJ
    • Barone B., Lopes C.L., Tyszler L.S., et al. Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa "Primeiros Passos"-IEDE/RJ. Arq Bras Endocrinol Metabol 2013, 57(1):57-61.
    • (2013) Arq Bras Endocrinol Metabol , vol.57 , Issue.1 , pp. 57-61
    • Barone, B.1    Lopes, C.L.2    Tyszler, L.S.3
  • 136
    • 84929695617 scopus 로고    scopus 로고
    • Para la prevención y control de los defectos al nacimiento. Accessed 30.12.14.
    • Norma Oficial Mexicana NOM-034-SSA2-2013. Para la prevención y control de los defectos al nacimiento. Accessed 30.12.14. http://www.dof.gob.mx/nota_detalle.php?codigo=5349816&fecha=24/06/2014.
  • 137
    • 84929668279 scopus 로고    scopus 로고
    • Programa de pesquisa neonatal de hipotiroidismo congénito de la Provincia de Buenos Aires: 1.377.455 niños evaluados en diez años de experiencia
    • González V., Santucci Z., Pattin J., et al. Programa de pesquisa neonatal de hipotiroidismo congénito de la Provincia de Buenos Aires: 1.377.455 niños evaluados en diez años de experiencia. Arch Argent Pediatr 2007, 105(5):390-397.
    • (2007) Arch Argent Pediatr , vol.105 , Issue.5 , pp. 390-397
    • González, V.1    Santucci, Z.2    Pattin, J.3
  • 138
    • 84929695618 scopus 로고    scopus 로고
    • Accessed 30.12.14.
    • Accessed 30.12.14. http://www.ins.gov.co/lineas-de-accion/Subdireccion-Vigilancia/sivigila/Protocolos%20SIVIGILA/PRO%20Defectos%20Congenitos.pdf.
  • 139
    • 84929665862 scopus 로고    scopus 로고
    • Tamizaje neonatal para hipotiroidismo congénito en Nicaragua
    • Ramírez C., Machado G., Lara M., Castellón E. Tamizaje neonatal para hipotiroidismo congénito en Nicaragua. Nicaragua Pediatr 2013, 1(2):6-10.
    • (2013) Nicaragua Pediatr , vol.1 , Issue.2 , pp. 6-10
    • Ramírez, C.1    Machado, G.2    Lara, M.3    Castellón, E.4
  • 140
    • 84878613420 scopus 로고    scopus 로고
    • Screening newborns in the Asia-Pacific Region
    • Oxford University Press, Oxford, D. Kumar (Ed.)
    • Padilla C.D., Therrell B.L. Screening newborns in the Asia-Pacific Region. Genomics and Health in the Developing World 2012, 764-781. Oxford University Press, Oxford. D. Kumar (Ed.).
    • (2012) Genomics and Health in the Developing World , pp. 764-781
    • Padilla, C.D.1    Therrell, B.L.2
  • 141
    • 84892443438 scopus 로고    scopus 로고
    • Newborn screening for inborn errors of metabolism in mainland China: 30 years of experience
    • Shi X.T., Cai J., Wang Y.Y., et al. Newborn screening for inborn errors of metabolism in mainland China: 30 years of experience. JIMD Rep 2012, 6:79-83.
    • (2012) JIMD Rep , vol.6 , pp. 79-83
    • Shi, X.T.1    Cai, J.2    Wang, Y.Y.3
  • 142
    • 67650930927 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism and phenylketonuria in China
    • Zhan J.Y., Qin Y.F., Zhao Z.Y. Neonatal screening for congenital hypothyroidism and phenylketonuria in China. World J Pediatr 2009, 5(2):136-139.
    • (2009) World J Pediatr , vol.5 , Issue.2 , pp. 136-139
    • Zhan, J.Y.1    Qin, Y.F.2    Zhao, Z.Y.3
  • 143
    • 84908539789 scopus 로고    scopus 로고
    • Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): an 8 year journey from pilot to current program
    • Lim J.S., Tan E.S., John C.M., et al. Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): an 8 year journey from pilot to current program. Mol Genet Metab 2014, 113(1-2):53-61.
    • (2014) Mol Genet Metab , vol.113 , Issue.1-2 , pp. 53-61
    • Lim, J.S.1    Tan, E.S.2    John, C.M.3
  • 144
    • 84878566102 scopus 로고    scopus 로고
    • Enhancing case detection of selected inherited disorders through expanded newborn screening in the Philippines
    • Padilla C. Enhancing case detection of selected inherited disorders through expanded newborn screening in the Philippines. Acta Med Philippina 2012, 46(4):24-29.
    • (2012) Acta Med Philippina , vol.46 , Issue.4 , pp. 24-29
    • Padilla, C.1
  • 145
    • 84907063457 scopus 로고    scopus 로고
    • Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward
    • Hettiarachchi M., Amarasena S. Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward. BMC Health Serv Res 2014, 12(14):385.
    • (2014) BMC Health Serv Res , vol.12 , Issue.14 , pp. 385
    • Hettiarachchi, M.1    Amarasena, S.2
  • 146
    • 84902387204 scopus 로고    scopus 로고
    • Present status and future concerns of expanded newborn screening in malaysia: sustainability, challenges and perspectives
    • Leong Y.H., Gan C.Y., Tan M.A., Majid M.I. Present status and future concerns of expanded newborn screening in malaysia: sustainability, challenges and perspectives. Malays J Med Sci 2014, 21(2):63-67.
    • (2014) Malays J Med Sci , vol.21 , Issue.2 , pp. 63-67
    • Leong, Y.H.1    Gan, C.Y.2    Tan, M.A.3    Majid, M.I.4
  • 147
    • 84929674876 scopus 로고    scopus 로고
    • Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan
    • Yamaguchi S., Purevusren J., Kobayashi H., et al. Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan. J Jap Soc Mass Screen 2013, 23:270-276.
    • (2013) J Jap Soc Mass Screen , vol.23 , pp. 270-276
    • Yamaguchi, S.1    Purevusren, J.2    Kobayashi, H.3
  • 148
    • 84899465674 scopus 로고    scopus 로고
    • Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo
    • Morikawa S., Nakamura A., Fujikura K., et al. Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo. Clin Pediatr Endocrinol 2014, 23(2):35-43.
    • (2014) Clin Pediatr Endocrinol , vol.23 , Issue.2 , pp. 35-43
    • Morikawa, S.1    Nakamura, A.2    Fujikura, K.3
  • 149
    • 84925002655 scopus 로고    scopus 로고
    • Newborn screening for congenital adrenal hyperplasia in New Zealand 1994-2013
    • Heather N.L., Seneviratne S.N., Webster D., et al. Newborn screening for congenital adrenal hyperplasia in New Zealand 1994-2013. J Clin Endocrinol Metab 2015, 100(3):1002-1008.
    • (2015) J Clin Endocrinol Metab , vol.100 , Issue.3 , pp. 1002-1008
    • Heather, N.L.1    Seneviratne, S.N.2    Webster, D.3
  • 150
    • 84871235734 scopus 로고    scopus 로고
    • Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening
    • Kitagawa T. Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening. Pediatr Endocrinol Rev 2012, 10(suppl 1):8-25.
    • (2012) Pediatr Endocrinol Rev , vol.10 , pp. 8-25
    • Kitagawa, T.1
  • 151
    • 84929637936 scopus 로고    scopus 로고
    • Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth
    • Chien Y.H., Lee N.C., Chen C.A., et al. Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. J Pediatr 2015, 166(4):985-991.
    • (2015) J Pediatr , vol.166 , Issue.4 , pp. 985-991
    • Chien, Y.H.1    Lee, N.C.2    Chen, C.A.3
  • 152
    • 84890786429 scopus 로고    scopus 로고
    • A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment
    • Yang C.F., Liu H.C., Hsu T.R., et al. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am J Med Genet A 2014, 164A(1):54-61.
    • (2014) Am J Med Genet A , vol.164A , Issue.1 , pp. 54-61
    • Yang, C.F.1    Liu, H.C.2    Hsu, T.R.3
  • 153
    • 84862539847 scopus 로고    scopus 로고
    • Algorithm for Pompe disease newborn screening: results from the Taiwan screening program
    • Chiang S.C., Hwu W.L., Lee N.C., Hsu L.W., Chien Y.H. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Mol Genet Metab 2012, 106(3):281-286.
    • (2012) Mol Genet Metab , vol.106 , Issue.3 , pp. 281-286
    • Chiang, S.C.1    Hwu, W.L.2    Lee, N.C.3    Hsu, L.W.4    Chien, Y.H.5
  • 154
    • 82255175878 scopus 로고    scopus 로고
    • Newborn screening for Pompe disease in Japan
    • Oda E., Tanaka T., Migita O., et al. Newborn screening for Pompe disease in Japan. Mol Genet Metab 2011, 104(4):560-565.
    • (2011) Mol Genet Metab , vol.104 , Issue.4 , pp. 560-565
    • Oda, E.1    Tanaka, T.2    Migita, O.3
  • 155
    • 84863229523 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population
    • Han M., Jun S.H., Song S.H., et al. Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population. Korean J Lab Med 2011, 31(4):250-256.
    • (2011) Korean J Lab Med , vol.31 , Issue.4 , pp. 250-256
    • Han, M.1    Jun, S.H.2    Song, S.H.3
  • 156
    • 84894088711 scopus 로고    scopus 로고
    • Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan
    • Liao H.C., Chiang C.C., Niu D.M., et al. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan. Clin Chim Acta 2014, 431:80-86.
    • (2014) Clin Chim Acta , vol.431 , pp. 80-86
    • Liao, H.C.1    Chiang, C.C.2    Niu, D.M.3
  • 157
    • 84890901494 scopus 로고    scopus 로고
    • Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases
    • Hwu W.L., Chien Y.H., Lee N.C., Wang S.F., Chiang S.C., Hsu L.W. Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases. Top Curr Chem 2014, 336:177-196.
    • (2014) Top Curr Chem , vol.336 , pp. 177-196
    • Hwu, W.L.1    Chien, Y.H.2    Lee, N.C.3    Wang, S.F.4    Chiang, S.C.5    Hsu, L.W.6
  • 158
    • 84884315786 scopus 로고    scopus 로고
    • A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
    • Lin S.P., Lin H.Y., Wang T.J., et al. A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis 2013, 8:147.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 147
    • Lin, S.P.1    Lin, H.Y.2    Wang, T.J.3
  • 159
    • 84873491676 scopus 로고    scopus 로고
    • Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
    • Wang L.Y., Chen N.I., Chen P.W., et al. Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. BMC Med Genet 2013, 10(14):24.
    • (2013) BMC Med Genet , vol.10 , Issue.14 , pp. 24
    • Wang, L.Y.1    Chen, N.I.2    Chen, P.W.3
  • 160
    • 84883270482 scopus 로고    scopus 로고
    • Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study
    • Inoue T., Hattori K., Ihara K., et al. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 2013, 58(8):548-552.
    • (2013) J Hum Genet , vol.58 , Issue.8 , pp. 548-552
    • Inoue, T.1    Hattori, K.2    Ihara, K.3
  • 161
    • 71549170927 scopus 로고    scopus 로고
    • Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards
    • Morinishi Y., Imai K., Nakagawa N., et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards. J Pediatr 2009, 155(6):829-833.
    • (2009) J Pediatr , vol.155 , Issue.6 , pp. 829-833
    • Morinishi, Y.1    Imai, K.2    Nakagawa, N.3
  • 162
    • 84903731689 scopus 로고    scopus 로고
    • Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots
    • Inaba Y., Schwartz C.E., Bui Q.M., et al. Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots. Clin Chem 2014, 60(7):963-973.
    • (2014) Clin Chem , vol.60 , Issue.7 , pp. 963-973
    • Inaba, Y.1    Schwartz, C.E.2    Bui, Q.M.3
  • 163
    • 50649122968 scopus 로고    scopus 로고
    • Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system
    • Kim G.H., Yang J.Y., Park J.Y., et al. Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. Genet Test 2008, 12(3):395-399.
    • (2008) Genet Test , vol.12 , Issue.3 , pp. 395-399
    • Kim, G.H.1    Yang, J.Y.2    Park, J.Y.3
  • 164
    • 84964314859 scopus 로고    scopus 로고
    • Fragile X protein in newborn dried blood spots
    • Adayev T., LaFauci G., Dobkin C., et al. Fragile X protein in newborn dried blood spots. BMC Med Genet 2014, 15(1):119.
    • (2014) BMC Med Genet , vol.15 , Issue.1 , pp. 119
    • Adayev, T.1    LaFauci, G.2    Dobkin, C.3
  • 165
    • 84899124265 scopus 로고    scopus 로고
    • Implementation of written consent for newborn screening in Victoria, Australia
    • Charles T., Pitt J., Halliday J., Amor D.J. Implementation of written consent for newborn screening in Victoria, Australia. J Paediatr Child Health 2014, 50(5):399-404.
    • (2014) J Paediatr Child Health , vol.50 , Issue.5 , pp. 399-404
    • Charles, T.1    Pitt, J.2    Halliday, J.3    Amor, D.J.4
  • 166
    • 84894100242 scopus 로고    scopus 로고
    • Newborn bloodspot screening: setting the Australian national policy agenda
    • Maxwell S.J., O'Leary P. Newborn bloodspot screening: setting the Australian national policy agenda. Med J Aust 2014, 200(3):142-143.
    • (2014) Med J Aust , vol.200 , Issue.3 , pp. 142-143
    • Maxwell, S.J.1    O'Leary, P.2
  • 167
    • 84880313043 scopus 로고    scopus 로고
    • National newborn screening program still a hype or a hope now?
    • Kapoor S., Gupta N., Kabra M. National newborn screening program still a hype or a hope now?. Indian Pediatr 2013, 50(7):639-643.
    • (2013) Indian Pediatr , vol.50 , Issue.7 , pp. 639-643
    • Kapoor, S.1    Gupta, N.2    Kabra, M.3
  • 169
    • 84929672405 scopus 로고    scopus 로고
    • Padilla CD Barriers to implementing sustainable national newborn screening in developing health systems
    • Accessed 20.04.15.
    • Therrell BL, Padilla CD Barriers to implementing sustainable national newborn screening in developing health systems. Int J Pediatr Adolesc Med. 2014;2(1):49-60. Accessed 20.04.15. http://www.sciencedirect.com/science/article/pii/S2352646714000179.
    • (2014) Int J Pediatr Adolesc Med. , vol.2 , Issue.1 , pp. 49-60
    • Therrell, B.L.1
  • 170
    • 84863093455 scopus 로고    scopus 로고
    • Consolidating newborn screening efforts in the Asia Pacific region: networking and shared education
    • Padilla C.D., Therrell B.L. Consolidating newborn screening efforts in the Asia Pacific region: networking and shared education. J Community Genet 2012, 3(1):35-45.
    • (2012) J Community Genet , vol.3 , Issue.1 , pp. 35-45
    • Padilla, C.D.1    Therrell, B.L.2
  • 172
    • 84929666327 scopus 로고    scopus 로고
    • Clinical and Laboratory Standards, Institute, Wayne, PA, [CLSI document NBS02-A2]
    • CLSI Newborn Screening Follow-up; Approved Guideline-Second Edition 2013, Clinical and Laboratory Standards, Institute, Wayne, PA, [CLSI document NBS02-A2].
    • (2013) Newborn Screening Follow-up; Approved Guideline-Second Edition
  • 174
  • 175
    • 81455122970 scopus 로고    scopus 로고
    • Clinical and Laboratory Standards, Institute, Wayne, PA, [CLSI document NBS05-A]
    • CLSI Newborn Screening for Cystic Fibrosis; Approved Guideline 2011, Clinical and Laboratory Standards, Institute, Wayne, PA, [CLSI document NBS05-A].
    • (2011) Newborn Screening for Cystic Fibrosis; Approved Guideline
  • 177
    • 84929695620 scopus 로고    scopus 로고
    • Accessed 14.01.15.
    • Accessed 14.01.15. http://www.isns-neoscreening.org/.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.