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The American Journal of Human Genetics, ISSN 0002-9297, 1999, Volume 64, Issue 4, pp. 1024 - 1035
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2007, Volume 6, Issue 10, pp. 857 - 868
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 12/2006, Volume 98, Issue 23, pp. 1694 - 1706
Journal Article
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 179 - 189
We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in... 
Fatty acid oxidation | Ethylmalonic aciduria | Ashkenazi | Developmental delay | Myopathy | Multicore myopathy | Short-chain acyl-CoA dehydrogenase deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | ashkenazi | myopathy | BIOCHEMISTRY & MOLECULAR BIOLOGY | COENZYME-A DEHYDROGENASE | multicore myopathy | aciduria | CREATINE-KINASE ACTIVITY | BALB/CBYJ MOUSE | ORGANIC ACIDURIA | SKELETAL-MUSCLE | ethylmalonic | SECONDARY CARNITINE DEFICIENCY | MULTICORE DISEASE | short-chain acyl-CoA dehydrogenase deficiency | GENETICS & HEREDITY | developmental delay | ETHYLMALONIC ACID | MOLECULAR PATHOGENESIS | fatty acid oxidation | NEWBORN BLOOD SPOTS | Brain | Lymphoblasts | Pneumonia | Cardiomyopathy | Muscles | Heterozygotes | Lipids | Infants | Substantia alba | Birth | Acyl-CoA dehydrogenase | Feeding | Psychosis | Mitochondria | Magnetic resonance imaging | Point mutation | Ophthalmoplegia | Fibroblasts | Oxidation | Genetic factors | Children | Muscular Diseases - enzymology | Humans | Child, Preschool | Infant | Male | DNA Primers - genetics | Metabolism, Inborn Errors - enzymology | Jews - genetics | Founder Effect | Base Sequence | Adult | Female | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Recombinant Proteins - metabolism | Butyryl-CoA Dehydrogenase - genetics | Recombinant Proteins - genetics | Metabolism, Inborn Errors - genetics | Butyryl-CoA Dehydrogenase - deficiency | Homozygote | Point Mutation | Phenotype | Animals | Adolescent | Alleles | Abnormalities, Multiple - enzymology | Heterozygote | Mice | Muscular Diseases - genetics | Index Medicus
Journal Article
Journal Article
2014, ISBN 9036807042, ix, 102 pages
This booklet summarizes our current knowledge of founder mutation populations ('extended families') in the Netherlands, among other aspects providing insight... 
Heart | Genetic aspects | Mutation (Biology) | Diseases
Book