-
2
-
-
71949101824
-
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
-
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
-
4
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
M Spada, S Pagliardini, M Yasuda et al. High incidence of later-onset Fabry disease revealed by newborn screening Am J Hum Genet 79 2006 31 40 (Pubitemid 43927374)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
Ponzone, A.7
Desnick, R.J.8
-
5
-
-
73349136303
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
|