Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies

American Journal of Medical Genetics

Volumn 72, Issue 3, 1997, Pages 286-290

  Parvari, Ruti ^a   Lei, Ke Jian ^b   Bashan, Nava ^a   Hershkovitz, Eli ^a   Korman, Stanley H ^c   Barash, Varda ^c   Lerman Sagie, Tali ^d   Mandel, Hannah ^e   Chou, Janice Yang ^b   Moses, Shimon W ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Ashkenazi Jews; Glycogen storage disease type 1a; Israeli mutations; Muslim Arabs

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE MUTATION; GLUCONEOGENESIS; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN SYNTHESIS; GLYCOGENOLYSIS; HUMAN; ISRAEL; JEW; MALE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

ARABS; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; ISLAM; ISRAEL; JEWS; LIVER; LIVER GLYCOGEN; MALE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS;

EID: 0030828883     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P     Document Type: Article

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