메뉴 건너뛰기




Volumn 379, Issue 9813, 2012, Pages 294-295

Neonatal screening for lysosomal storage disorders

Author keywords

[No Author keywords available]

Indexed keywords

AUSTRIA; ENZYME ANALYSIS; FABRY DISEASE; GAUCHER DISEASE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LYSOSOME STORAGE DISEASE; NEWBORN SCREENING; NIEMANN PICK DISEASE; NOTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 84856382616     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(11)61744-3     Document Type: Note
Times cited : (8)

References (13)
  • 2
    • 71949101824 scopus 로고    scopus 로고
    • Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
    • YH Chien, NC Lee, BL Thurberg et al. Pompe disease in infants: improving the prognosis by newborn screening and early treatment Pediatrics 124 2009 e1116 e1125
    • (2009) Pediatrics , vol.124
    • Chien, Y.H.1    Lee, N.C.2    Thurberg, B.L.3
  • 3
    • 84856368463 scopus 로고    scopus 로고
    • Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria
    • 10.1016/S0140-6736(11)61266-X published online Nov 30
    • TP Mechtler, S Stary, TF Metz et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria Lancet 2011 10.1016/S0140-6736(11)61266-X published online Nov 30.
    • (2011) Lancet
    • Mechtler, T.P.1    Stary, S.2    Metz, T.F.3
  • 5
    • 73349136303 scopus 로고    scopus 로고
    • Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
    • WL Hwu, YH Chien, NC Lee et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) Hum Mutat 30 2009 1397 1405
    • (2009) Hum Mutat , vol.30 , pp. 1397-1405
    • Hwu, W.L.1    Chien, Y.H.2    Lee, N.C.3
  • 6
    • 34548493905 scopus 로고    scopus 로고
    • Introducing new screens: Why are we all doing different things?
    • DOI 10.1007/s10545-007-0647-2
    • RJ Pollitt Introducing new screens: why are we all doing different things? J Inherit Metab Dis 30 2007 423 429 (Pubitemid 47377037)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.4 , pp. 423-429
    • Pollitt, R.J.1
  • 7
    • 77954101543 scopus 로고    scopus 로고
    • Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Advisory Committee on Heritable Disorders in Newborns and Children
    • N Calonge, NS Green, P Rinaldo et al. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Advisory Committee on Heritable Disorders in Newborns and Children Genet Med 12 2010 153 159
    • (2010) Genet Med , vol.12 , pp. 153-159
    • Calonge, N.1    Green, N.S.2    Rinaldo, P.3
  • 8
    • 84863871273 scopus 로고    scopus 로고
    • UK National Screening Committee (accessed Nov 5, 2011)
    • UK National Screening Committee Programme appraisal criteria http://www.screening.nhs.uk/criteria (accessed Nov 5, 2011).
    • Programme Appraisal Criteria
  • 9
    • 25844501490 scopus 로고    scopus 로고
    • Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: Enough is enough!
    • PM Farrell, HJ Lai, Z Li et al. Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough! J Pediatr 147 suppl 3 2005 S30 S36
    • (2005) J Pediatr , vol.147 , Issue.SUPPL. 3
    • Farrell, P.M.1    Lai, H.J.2    Li, Z.3
  • 10
    • 67749135437 scopus 로고    scopus 로고
    • Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years
    • B Wilcken, M Haas, P Joy et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years Pediatrics 124 2009 e241 e248
    • (2009) Pediatrics , vol.124
    • Wilcken, B.1    Haas, M.2    Joy, P.3
  • 12
    • 33745696605 scopus 로고    scopus 로고
    • The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: A systematic review
    • M Connock, A Burls, E Frew et al. The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review Health Technol Assess 10 2006 1 136
    • (2006) Health Technol Assess , vol.10 , pp. 1-136
    • Connock, M.1    Burls, A.2    Frew, E.3
  • 13
    • 34248344253 scopus 로고    scopus 로고
    • Newborn screening for mucopolysaccharidoses: Opinions of patients and their families
    • DOI 10.1111/j.1399-0004.2007.00783.x
    • IM Hayes, V Collins, M Sahhar, JE Wraith, MB Delatycki Newborn screening for mucopolysaccharidoses: opinions of patients and their families Clin Genet 71 2007 446 450 (Pubitemid 46730654)
    • (2007) Clinical Genetics , vol.71 , Issue.5 , pp. 446-450
    • Hayes, I.M.1    Collins, V.2    Sahhar, M.3    Wraith, J.E.4    Delatycki, M.B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.