Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 205-208

  Matern, D ^a   Niederhoff, H ^a   Brandis, M ^a   Chou, J Y ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ADOLESCENT; CASE REPORT; CHROMOSOME 17; CLINICAL FEATURE; CONFERENCE PAPER; EXON; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE 1A; HUMAN; MALE; SCREENING;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029985440     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799430     Document Type: Conference Paper

References (8)

1. Chen Y-T, Burchell A (1995) The glycogen storage diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 935-965.
2. Lei K-J, Shelly LL, Pan C-J, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia. Science 262: 580-583.
3. Lei K-J, Pan C-J, Shelly LL, Liu J-L, Chou JY (1994) Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type Ia. J Clin Invest 93: 1994-1999.
4. Lei K-J, Shelly LL, Lin B, et al (1995a) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types Ia and IaSP and not Ib and Ic. J Clin Invest 95: 234-240.
5. Lei K-J, Chen Y-T, Chen H, et al (1995b) Genetic basis of glycogen storage disease type Ia: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57: 766-771.
6. Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N (1995) Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type Ia: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 18: 21-27.
7. Shin YS (1990) Diagnosis of glycogen storage disease. J Inher Metab Dis 13: 419-434.
8. Smit GPA (1993) The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 152 (supplement 1): S52-S55.