Glutaric aciduria type I in the Arab and Jewish communities in Israel

American Journal of Human Genetics

Volumn 59, Issue 5, 1996, Pages 1012-1018

  Anikster, Y ^a   Shaag, A ^a   Joseph, A ^a   Mandel, H ^b   Ben Zeev, B ^b   Christensen, E ^b   Elpeleg, O N ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACIDURIA; ARTICLE; CLINICAL ARTICLE; CULTURAL ANTHROPOLOGY; FEMALE; GENETIC ANALYSIS; GENETIC RISK; HIGH RISK POPULATION; HUMAN; JEW; MALE; PRIORITY JOURNAL;

ADULT; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; ARABS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; ISRAEL; JEWS; MALE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; POINT MUTATION;

EID: 0029972219     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Amir N, Elpeleg ON, Shalev R, Christensen E (1987) Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology 37:1654-1657
2. (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 114:983-989
3. Bach G, Moskowitz SM, Thieu PT, Matynia A, Neufeld EF (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53:330-338
4. Goodman SI, Frerman FE (1995) Organic acidemia due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1451-1460
5. Goodman SI, Kratz LE, DiGiulio KA, Biery BJ, Goodman KE, Isaya G, Frerman FE (1995) Cloning of glutaryl-CoA dehydrogenase cDNA and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 4:1493-1498