Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
about
Disclosing to parents newborn carrier status identified by routine blood spot screeningFetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementA new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiencyIncidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.Newborn and childhood screening programmes: criteria, evidence, and current policy.Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesDecision analysis, economic evaluation, and newborn screening: challenges and opportunities.The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Economics of tandem mass spectrometry screening of neonatal inherited disorders.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.Extended newborn screening: an update for the general paediatrician.221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry.Expanded newborn screening: Lessons learned from MCAD deficiency.A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome.Newborn screening: complexities in universal genetic testing.
P2860
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P2860
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@ast
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@en
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@nl
type
label
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@ast
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@en
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@nl
prefLabel
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@ast
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@en
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@nl
P2093
P2860
P356
P1476
Evaluation of newborn screenin ...... e deficiency in 275 000 babies
@en
P2093
P2860
P304
P356
10.1136/FN.85.2.F105
P407
P577
2001-09-01T00:00:00Z