Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

American Journal of Medical Genetics

Volumn 82, Issue 2, 1999, Pages 177-182

  Shaag, Avraham ^a   Saada, Ann ^a   Berger, Itai ^a   Mandel, Hanna ^b   Joseph, Adina ^a   Feigenbaum, Annette ^c   Elpeleg, Orly N ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b RAMBAM MEDICAL CENTER   (Israel)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Ashkenazi Jews; Lactic acidemia; Lipoamide dehydrogenase deficiency; Metabolic liver disease

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; JEW; LACTIC ACIDEMIA; MALE; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; DIHYDROLIPOAMIDE DEHYDROGENASE; DNA PROBES; FEMALE; HUMANS; INFANT, NEWBORN; JEWS; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA, MUSCLE; MUTATION; PEDIGREE;

EID: 0033555479     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9     Document Type: Article

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