Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1362, Issue 2-3, 1997, Pages 160-168

  Hong, Young Soo ^a   Kerr, Douglas S ^b   Liu, Te Chung ^b,d   Lusk, Marilyn ^b   Powell, Berkley R ^c,e   Patel, Mulchand S ^a  

^a UNIVERSITY AT BUFFALO   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^e UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

Author keywords

Dihydrolipoamide dehydrogenase deficiency; Inborn error; Multiple complex deficiency; Prenatal diagnosis; Pyruvate dehydrogenase complex deficiency

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE; OXOGLUTARATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; INFANT; LYMPHOCYTE; MALE; METABOLIC ACIDOSIS; NUCLEIC ACID BASE SUBSTITUTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST;

ACIDOSIS; AMINO ACID METABOLISM, INBORN ERRORS; DIHYDROLIPOAMIDE DEHYDROGENASE; DNA, COMPLEMENTARY; FEMALE; HUMANS; INFANT, NEWBORN; KETOGLUTARATE DEHYDROGENASE COMPLEX; LIVER; MALE; MUSCLE, SKELETAL; MYOCARDIUM; PEDIGREE; POINT MUTATION; PYRUVATE DEHYDROGENASE COMPLEX; SEQUENCE DELETION;

EID: 0031593220     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(97)00073-2     Document Type: Article

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