Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 178-182

  van der Watt, George ^a   Owen, Elizabeth P ^a   Berman, Peter ^a   Meldau, Surita ^a   Watermeyer, Nicholas ^a   Olpin, Simon E ^b   Manning, Nigel J ^a   Baumgarten, Ingrid ^a   Leisegang, Felicity ^a   Henderson, Howard ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

3 hydroxyglutaric acid; A293T; Glutaric acid; Glutaric aciduria type 1; Glutaryl CoA dehydrogenase; Newborn screening

Indexed keywords

3 HYDROXYGLUTAMIC ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; LYSINE; TRYPTOPHAN;

ARTICLE; BRAIN INJURY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; GLUTARIC ACIDURIA TYPE 1; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; HUMAN; INFANT; MALE; NEGRO; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SOUTH AFRICA;

AFRICAN CONTINENTAL ANCESTRY GROUP; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; FEMALE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; SOUTH AFRICA;

EID: 77957235931     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.07.018     Document Type: Article

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