A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

Journal of Inherited Metabolic Disease

Volumn 29, Issue 1, 2006, Pages 224-225

  Martens, D H J ^a   Kuijpers, T W ^c   Maianski, N A ^c,d   Rake, J P ^b   Smit, G P A ^a   Visser, G ^e  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b MARTINI HOSPITAL   (Netherlands)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

^d SANQUIN RESEARCH   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE DELETION; GENETIC ASSOCIATION; GENOTYPE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1B; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; LEUKOCYTE FUNCTION; MALE; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; PATHOPHYSIOLOGY; PHENOTYPE; RESPIRATORY BURST;

ADOLESCENT; ANTIPORTERS; GLYCOGEN STORAGE DISEASE TYPE I; HOMOZYGOTE; HUMANS; LIVER; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; NEUTROPENIA; NEUTROPHILS; PHENOTYPE;

EID: 33645654565     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0146-x     Document Type: Article

References (4)

1. Kuijpers TW, Maianski NA, Tool ATJ, et al (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD Ib). Blood 101: 5021-5024.
2. Kure S, Hou DC, Suzuki Y, et al (2000) Glycogen storage disease type Ib without neutropenia. J Pediatr 137: 253-256.
3. Visser G, Rake JP, Fernandes J, et al (2000) Neutropenia, neutrophil dysfunction and inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr 137: 187-191.
4. Weston BW, Lin JL, Muenzer J, et al (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res 48: 329-334.