Glycogen storage disease type Ib without neutropenia

Journal of Pediatrics

Volumn 137, Issue 2, 2000, Pages 253-256

  Kure, Shigeo ^a,b,c   Hou, Dian Chang ^a,b,c   Suzuki, Yasuyuki ^a,b,c   Yamagishi, Atsushi ^a,b,c   Hiratsuka, Masahiro ^a,b,c   Fukuda, Tokiko ^a,b,c   Sugie, Hideo ^a,b,c   Kondo, Naomi ^a,b,c   Matsubara, Yoichi ^a,b,c   Narisawa, Kuniaki ^a,b,c  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; JAPAN; LIVER MICROSOME; NEUTROPENIA; PRIORITY JOURNAL;

EID: 0033842818     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2000.107472     Document Type: Article

References (16)

1. A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system
2. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
3. Molecular analysis of glycogen storage disease type Ib: Identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phospbate translocase gene to chromosome 11
4. Structure of the gene mutated in glycogen storage disease Type Ib
5. Molecular analysis of glycogen storage disease type Ib: Structural and mutation analysis of the gene encoding microsomal glucose-6-phosphate transporter
6. Neutropenia and impaired neutrophil migration in type IB glycogen storage disease
7. Infectious and bleeding complications in patients with glycogenosis Ib
8. A method for the diagnosis of glycogen storage disease type Ib using polymorphonuclear leukocytes
9. An adult case of type Ib glycogen-storage disease: Enzymatic and histochemical studies
10. Glycogen storage disease type Ib: Microsomal glucose-6-phosphatase system in two patients with different clinical findings
11. Glycogen storage disease type Ib: Genetic disorder involving the transport system of intracellular membrane
12. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
13. Cloning and characterization of cDNA encoding a candidate glycogen storage disease type Ib protein in rodents
14. A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
15. Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease type Ia and IaSP but not Ib and Ic