-
2
-
-
77954231674
-
Nutrition management of patients with inherited disorders of aromatic amino acid metabolism
-
Acosta PB, ed, Sudbury, MA: Jones and Bartlett Publishers
-
Acosta PB, Michals Matalon K. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. In: Acosta PB, ed. Nutrition management of patients with inherited metabolic disorders. Sudbury, MA: Jones and Bartlett Publishers, 2010:119-52
-
(2010)
Nutrition Management of Patients with Inherited Metabolic Disorders
, pp. 119-152
-
-
Acosta, P.B.1
Matalon, K.M.2
-
3
-
-
51649099933
-
Stability of blood phenylalanine levels and IQ in children with phenylketonuria
-
Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab 2008;95:17-20
-
(2008)
Mol Genet Metab
, vol.95
, pp. 17-20
-
-
Anastasoaie, V.1
Kurzius, L.2
Forbes, P.3
Waisbren, S.4
-
5
-
-
59749105153
-
Brain dysfunction in phenylketonuria: Is phenylalanine the only possible cause?
-
Van Spronsen FJ, Hoeksma M, Reijngoud DJ. Brain dysfunction in phenylketonuria: is phenylalanine the only possible cause? J Inherit Metab Dis 2009;32:46-51
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 46-51
-
-
Van Spronsen, F.J.1
Hoeksma, M.2
Reijngoud, D.J.3
-
6
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
7
-
-
41149122137
-
Screening for Phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation Recommendation
-
US Preventive Services Task Force
-
US Preventive Services Task Force. Screening for Phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation Recommendation. Ann Fam Med 2008;6:166
-
(2008)
Ann Fam Med
, vol.6
, pp. 166
-
-
-
8
-
-
34548468763
-
Cost-benefit analysis of the Mexican Neonatal screening program for inborn errors of metabolism
-
Therrell BL, ed, Amsterdam: Excerpta Medica
-
Carrasco C, Ruiz de Chávez S, Rodríguez-Budelli M, Velázquez A. Cost-benefit analysis of the Mexican Neonatal screening program for inborn errors of metabolism. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Excerpta Medica, 1987:447-48
-
(1987)
Advances in Neonatal Screening
, pp. 447-448
-
-
Carrasco, C.1
De Chávez, R.S.2
Rodríguez-Budelli, M.3
Velázquez, A.4
-
9
-
-
17144470109
-
Neonatal screening for inborn errors of metabolism: Cost, yield and outcome
-
Pollitt RJ, Green A, McCabe CJ, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1997;1:1-202
-
(1997)
Health Technol Assess
, vol.1
, pp. 1-202
-
-
Pollitt, R.J.1
Green, A.2
McCabe, C.J.3
-
10
-
-
33644848683
-
Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism
-
DOI 10.1111/j.1440-1754.2005.00725.x
-
Geelhoed EA, Lewis B, Hounsome D, O'Leary P. Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health 2005;41:575-79 (Pubitemid 43961162)
-
(2005)
Journal of Paediatrics and Child Health
, vol.41
, Issue.11
, pp. 575-579
-
-
Geelhoed, E.A.1
Lewis, B.2
Hounsome, D.3
O'Leary, P.4
-
11
-
-
33644638058
-
The time has come: A new scene for PKU treatment
-
Lara dos Santos L, de Castro Magalhães M, Januário JN, Burle de Aguiar MJ, Santos Carvalho MR. The time has come: a new scene for PKU treatment. Gen Mol Res 2006;5:33-44 (Pubitemid 43326932)
-
(2006)
Genetics and Molecular Research
, vol.5
, Issue.1
, pp. 33-44
-
-
Dos Santos, L.L.1
Magalhaes, M.D.C.2
Januario, J.N.3
Burle De Aguiar, M.J.4
Carvalho, M.R.S.5
-
12
-
-
67650103502
-
Detection of phenylketonuria by the newborn screening program in Thailand
-
Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S. Detection of phenylketonuria by the newborn screening program in Thailand. Southeast Asian J Trop Med Public Health 2009;40:525-29
-
(2009)
Southeast Asian J Trop Med Public Health
, vol.40
, pp. 525-529
-
-
Pangkanon, S.1
Charoensiriwatana, W.2
Janejai, N.3
Boonwanich, W.4
Chaisomchit, S.5
-
13
-
-
84897925717
-
Past, present and future of newborn screening in Chile
-
DOI:10.1007/s10545-010-9165-8
-
Cornejo V, Raimann E, Cabello JF, et al. Past, present and future of newborn screening in Chile. J Inherit Metab Dis 2010; DOI:10.1007/s10545-010- 9165-8
-
(2010)
J Inherit Metab Dis
-
-
Cornejo, V.1
Raimann, E.2
Cabello, J.F.3
-
14
-
-
0028435190
-
Tamiz neonatal para hipotiroidismo congénito y fenilcetonuria
-
Velázquez A, Loera-Luna A, Aguirre BE, Gamboa S, Vargas H, Robles C. Tamiz neonatal para hipotiroidismo congénito y fenilcetonuria. Salud Publica Mex 1994;36:249-56
-
(1994)
Salud Publica Mex
, vol.36
, pp. 249-256
-
-
Velázquez, A.1
Loera-Luna, A.2
Aguirre, B.E.3
Gamboa, S.4
Vargas, H.5
Robles, C.6
-
15
-
-
2942632831
-
Epidemiología del hipotiroidismo congénito en México
-
Vela-Amieva M, Gamboa-Cardiel S, Pérez-Andrade ME, Ortiz-Cortés J, González-Contreras CR, Ortega-Velázquez V. Epidemiology of congenital hypothyroidism in Mexico. Salud Publica Mex 2004;46:141-48 (Pubitemid 38765540)
-
(2004)
Salud Publica de Mexico
, vol.46
, Issue.2
, pp. 141-148
-
-
Vela-Amieva, M.1
Gamboa-Cardiel, S.2
Perez-Andrade, M.E.3
Ortiz-Cortes, J.4
Gonzalez-Contreras, C.R.5
Ortega-Velazquez, V.6
-
16
-
-
34548481991
-
Newborn screening in Latin America at the beginning of the 21st century
-
DOI 10.1007/s10545-007-0669-9
-
Borrajo GJ. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis. 2007;30:466-81 (Pubitemid 47377042)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.4
, pp. 466-481
-
-
Borrajo, G.J.C.1
-
18
-
-
3242662769
-
Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
-
DOI 10.1016/j.jpeds.2004.04.029, PII S0022347604003282
-
Camfield CS, Joseph M, Hurley T, Campbell K, Sanderson S, Camfield PR. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 2004;145:53-7 (Pubitemid 38962452)
-
(2004)
Journal of Pediatrics
, vol.145
, Issue.1
, pp. 53-57
-
-
Camfield, C.S.1
Joseph, M.2
Hurley, T.3
Campbell, K.4
Sanderson, S.5
Camfield, P.R.6
-
19
-
-
80655142717
-
-
Declaration of Common Principles on Centres of Expertise and European Reference Networks for Rare Diseases Internet 2008 Nov. 15. Available from
-
Declaration of Common Principles on Centres of Expertise and European Reference Networks for Rare Diseases [Internet] 2008 Nov. 15. Available from: http://www.eurordis.org/sites/default/files/publications/Declaration- Centres%20of%20Expertise-nov08.pdf
-
-
-
-
20
-
-
77649172714
-
Newborn Screening System Performance Evaluation Assessment Scheme (PEAS)
-
PEAS Organizing and Working Groups
-
Therrell BL, Schwartz M, Southard C, Williams D, Hannon WH, Mann MY; PEAS Organizing and Working Groups. Newborn Screening System Performance Evaluation Assessment Scheme (PEAS). Semin Perinatol 2010;34:105-20
-
(2010)
Semin Perinatol
, vol.34
, pp. 105-120
-
-
Therrell, B.L.1
Schwartz, M.2
Southard, C.3
Williams, D.4
Hannon, W.H.5
Mann, M.Y.6
-
21
-
-
0025039145
-
Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status
-
Lundsjô A, Hagelberg S, Palmér K, Lindblad BS. Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status. Clin Chem Acta 1990;191:201-9
-
(1990)
Clin Chem Acta
, vol.191
, pp. 201-209
-
-
Lundsjô, A.1
Hagelberg, S.2
Palmér, K.3
Lindblad, B.S.4
-
22
-
-
79952194543
-
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
-
DOI:10.1097/GIM.0b013e31820d5e67
-
McHugh DM, Cameron CA, Abdenur JE, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011; DOI:10.1097/GIM.0b013e31820d5e67
-
(2011)
Genet Med
-
-
McHugh, D.M.1
Cameron, C.A.2
Abdenur, J.E.3
-
23
-
-
80655125707
-
Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría
-
Vela-Amieva M, Ibarra-González I, Monroy-Santoyo S, et al. Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría. Acta Pediatr Mex 2010;31:297-303
-
(2010)
Acta Pediatr Mex
, vol.31
, pp. 297-303
-
-
Vela-Amieva, M.1
Ibarra-González, I.2
Monroy-Santoyo, S.3
-
24
-
-
80655142716
-
-
Mental and behavioral disorders, In: World Health Organisation, ed. International Statistical Classification of Diseases and Related Health Problems 10th Revision. Internet 2007. Available from
-
Mental and behavioral disorders. In: World Health Organisation, ed. International Statistical Classification of Diseases and Related Health Problems 10th Revision. [Internet] 2007. Available from: http://apps.who.int/ classifications/apps/icd/icd10online/
-
-
-
-
25
-
-
0034790129
-
National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management
-
National Institutes of Health Consensus Development Panel, October 16-18, 2000
-
National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management, October 16-18, 2000. Pediatrics 2001;108:972-82
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
26
-
-
77649304789
-
Newborn screening progress in developing countries - Overcoming internal barriers
-
Padilla CD, Krotoski D, Therrell Jr. BL Newborn screening progress in developing countries - overcoming internal barriers. Semin Perinatol 2010;34:145-55
-
(2010)
Semin Perinatol
, vol.34
, pp. 145-155
-
-
Padilla, C.D.1
Krotoski, D.2
Therrell Jr., B.L.3
-
27
-
-
80655125714
-
-
Clinical and Laboratory Standards Institute CLSI: Newborn Screening Follow-up; Approved Guideline: CLSI Document I/LA27-A. Wayne, PA: Clinical and Laboratory Standards Institute, 2006
-
Clinical and Laboratory Standards Institute (CLSI): Newborn Screening Follow-up; Approved Guideline: CLSI Document I/LA27-A. Wayne, PA: Clinical and Laboratory Standards Institute, 2006
-
-
-
-
29
-
-
34548416775
-
Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis
-
DOI 10.1016/j.ymgme.2007.05.006, PII S1096719207001667
-
Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007;92:63-70 (Pubitemid 47361886)
-
(2007)
Molecular Genetics and Metabolism
, vol.92
, Issue.1-2
, pp. 63-70
-
-
Waisbren, S.E.1
Noel, K.2
Fahrbach, K.3
Cella, C.4
Frame, D.5
Dorenbaum, A.6
Levy, H.7
-
30
-
-
13344282088
-
Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco
-
Velázquez A, Bilbao G, González-Trujillo JL, et al. Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco. Hum Genet 1996;97:99-102 (Pubitemid 26002983)
-
(1996)
Human Genetics
, vol.97
, Issue.1
, pp. 99-102
-
-
Velazquez, A.1
Bilbao, G.2
Gonzalez-Trujillo, J.L.3
Hernandez, D.4
Perez-Andrade, M.E.5
Vela, M.6
Ciceron, I.7
Loera-Luna, A.8
Cederbaum, S.9
Phoenix, B.10
-
31
-
-
34848850451
-
The PAH gene, phenylketonuria, and a paradigm shift
-
DOI 10.1002/humu.20526
-
Scriver CR. The PAH gene, Phenylketonuria, and the Paradigm Shift. Hum Mutat 2007;28:831-45 (Pubitemid 47579933)
-
(2007)
Human Mutation
, vol.28
, Issue.9
, pp. 831-845
-
-
Scriver, C.R.1
-
32
-
-
0036889928
-
Phenylketonuria: An update
-
DOI 10.1097/00008480-200212000-00010
-
Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr 2002;14:702-6 (Pubitemid 35333132)
-
(2002)
Current Opinion in Pediatrics
, vol.14
, Issue.6
, pp. 702-706
-
-
Cederbaum, S.1
-
33
-
-
77955887072
-
Phenylketonuria: A 21st century perspective
-
van Spronsen FJ. Phenylketonuria: a 21st century perspective. Nat Rev Endocrinol 2010;6:509-14
-
(2010)
Nat Rev Endocrinol
, vol.6
, pp. 509-514
-
-
Van Spronsen, F.J.1
-
34
-
-
77649113667
-
Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention
-
De Jesús VR, Mei JV, Bell CJ, Hannon WH. Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention. Semin Perinatol 2010;34:125-33
-
(2010)
Semin Perinatol
, vol.34
, pp. 125-133
-
-
De Jesús, V.R.1
Mei, J.V.2
Bell, C.J.3
Hannon, W.H.4
|