Glycogen storage disease type Ia: Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

European Journal of Pediatrics

Volumn 159, Issue 5, 2000, Pages 322-330

  Rake, Jan Peter ^a   ten Berge, Annelies M ^b   Visser, Gepke ^a   Verlind, Edwin ^b   Niezen Koning, Klary E ^a   Buys, Charles H C M ^b   Smit, G Peter A ^a   Scheffer, Hans ^b  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

Diagnosis; Glucose 6 phosphatase; Glycogen storage disease type Ia; Mutations; Prenatal diagnosis

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; HUMAN CELL; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHORIONIC VILLI SAMPLING; DNA; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY;

EID: 0034091934     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051281     Document Type: Article

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