A new mutation of the glucose-6-phosphatase gene in a 1-year-old girl with oligosymptomatic glycogen storage disease type 1a

Journal of Pediatrics

Volumn 132, Issue 2, 1998, Pages 360-361

  Keller, K M ^a   Schutz, M ^a   Podskarbi, T ^a   Bindl, L ^a   Lentze, M J ^a   Shin, Y S ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; BIOTINIDASE; DNA; GLUCOSE; GLUCOSE 6 PHOSPHATASE; GLYCOGEN; LACTIC ACID; MALTODEXTRIN; STARCH;

ARTICLE; CASE REPORT; CHILD; DIET SUPPLEMENTATION; ECHOGRAPHY; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOSITY; HUMAN; LIVER BIOPSY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031940021     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70463-9     Document Type: Article

References (7)

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4. K-J Lei LL Shelly C-J Pan JB Sitbury JY. Chou Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a Science 262 1993 580 583
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6. BA Haber S Chin E Chuang W Buikhuisen A Naji R. Taub High levels of glucose-6-phosphatase gene and protein expression reflect an adaptive response in proliferating liver and diabetes J Clin Invest 95 1995 832 841
7. K-J Lei C-J Pan J-L Liu LL Shelly JY. Chou Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a J Biol Chem 270 1995 11882 11886