Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

Journal of Pediatrics

Volumn 140, Issue 6, 2002, Pages 781-783

  Bachrach, Bert E ^a,b,d   Weinstein, David A ^c,d   Orho Melander, Marju ^c,d   Burgess, Anne ^c,d   Wolfsdorf, Joseph I ^c,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL AT DARTMOUTH   (United States)

^c Lund University ^*

^d LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN SYNTHASE;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLUCOSURIA; GLYCOGEN STORAGE DISEASE; HUMAN; HYPERGLYCEMIA; LIVER BIOPSY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0036085512     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.124317     Document Type: Article

References (12)

1. Hepatic glycogen synthetase deficiency: Definition of syndrome from metabolic and enzyme studies on a 9 year old girl
2. Infantile hypoglycemia due to inherited deficiency of glycogen synthetase in liver
3. Hepatic glycogen synthetase deficiency: Further studies on a family
4. Liver glycogen synthetase deficiency: A rarely diagnosed entity
5. Liver glycogen synthase deficiency: A cause of ketotic hypoglycemia
6. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0
7. Asymptomatic hepatic glycogen-synthetase deficiency
8. Deficienca en glucogeno sintetasa hepatica o glucogenosis tipo cero: Fenotipo menos severo con defecto enzimatico parcial
9. Fanconi-Bickel syndrome: The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
10. Isolation and characterization of the human muscle glycogen synthase gene
11. Changes of glucose transporters in the cerebral adaptation to hypoglycemia
12. Increase in glucose transporter densities of Glut3 and decrease of glucose utilization in rat brain after one week of hypoglycemia