Frequency of the G985 MCAD mutation in the general population-Reference-Cited by-同舟云学术

Frequency of the G985 MCAD mutation in the general population

Published:1991-02 Issue:8736 Volume:337 Page:298-299
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Blakemore AlexandraI.F,Singleton Helen,Pollitt RodneyJ,Engel PaulC,Kolvraa Steen,Gregersen Niels,Curtis Diana

Publisher

Elsevier BV

Subject

General Medicine

Reference5 articles.

1. Fatty acid oxidation defects as causes of unexpected death in infancy;Bennett,1990

2. Molecular lesion in patients with medium chain acyl-CoA dehydrogenase deficiency;Matsubara;Lancet,1990

3. Mutations is medium chain acyl-CoA dehydroxgenase deficiency;Yokota;Lancet,1990

4. Mutations in medium chain acyl-CoA dehydrogenase deficiency;Din;Lancet,1990

5. N. Gregersen, Bs Andresen, P. Bross, et al., Molecular characterisation of medium chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys 329-glu mutation in the MCAD gene and expression of inactive mutant protein in E coli., Hum Genet ((in press)).

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2. Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease;Bioscience Reports;2016-03-16

3. Lipid Storage Myopathies Due to Fatty Acid Oxidation Defects;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015

4. Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence;Journal of Clinical Epidemiology;2014-10

5. Disorders of fatty acid oxidation;Handbook of Clinical Neurology;2013