Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

Published:2005-04-14 Issue:5 Volume:25 Page:443-452
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Maier Esther M.,Liebl Bernhard,Röschinger Wulf,Nennstiel-Ratzel Uta,Fingerhut Ralph,Olgemöller Bernhard,Busch Ulrich,Krone Nils,Kries Rüdiger v.,Roscher Adelbert A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype questionmark;Andresen;Hum Mol Genet,1997

2. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency;Andresen;Am J Hum Genet,2001

3. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

4. New MCAD gene mutation, not previously reported in other nations, found at A1161G in Turkish population;Bozkurt;Am J Med Genet,2001

5. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies;Carpenter;Arch Dis Child Fetal Neonatal Ed,2001

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