Diagnosis of glycogen storage disease type Ia: DNA-analysis of leukocytes as an alternative to the enzyme assay in a liver biopsy specimen;Diagnostik der glykogenose type 1a: DNA-analyse aus leukozyten als alternative zum enzymassay aus einem frischen leberbiopsat

Monatsschrift fur Kinderheilkunde

Volumn 146, Issue 7, 1998, Pages 660-664

  Matern, D ^a,b   Lang, Christine ^a   Beck, S ^a   Brandis, M ^a   Seydewitz, H H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Glucose 6 phosphatase; Glycogen storage disease type Ia; Mutation analysis; SSCP; Von Gierke disease

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DNA DETERMINATION; ENZYME ASSAY; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; LIVER BIOPSY;

EID: 0031879285     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120050306     Document Type: Article

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