A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia

Journal of Inherited Metabolic Disease

Volumn 23, Issue 8, 2000, Pages 851-852

  Goto, M ^a   Taki, T ^a   Sugie, H ^b   Miki, Y ^a   Kato, H ^a   Hayashi, Y ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Hamamatsu City Medical Center for Developmental Medicine   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; GLUCAGON; GLUCOSE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLYCOGEN; LACTIC ACID;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; KOREA; LACTIC ACIDOSIS; LIVER BIOPSY; MALE; ORAL GLUCOSE TOLERANCE TEST; PATHOGENESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SHORT STATURE; TWINS;

CHILD, PRESCHOOL; DISEASES IN TWINS; FEMALE; GENE DELETION; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; KOREA; MALE; TWINS, MONOZYGOTIC;

EID: 0034503103     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1026777106212     Document Type: Article

References (3)

1. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
2. Genetic anomalies and clinical symptoms of Japanese patients with glycogen storage disease type 1a
3. Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase