Glycogen storage disease manifested as gout and myopathy: Three case reports and literature review

Clinical Rheumatology

Volumn 27, Issue 5, 2008, Pages 671-674

  Zhang, Wei ^a   Bao, Chun De ^a   Gu, Yue Ying ^a   Ye, Shuang ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Alpha glycosidase; Diagnosis; Glucose 6 phosphatase; Glycogen storage

Indexed keywords

CORTICOSTEROID; IMMUNOSUPPRESSIVE AGENT; PREDNISONE;

ADULT; ARTICLE; CASE REPORT; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; GOUT; HUMAN; MALE; METABOLIC DISORDER; MYOPATHY; PRIORITY JOURNAL; RHEUMATIC DISEASE; SYMPTOM;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLYCOGEN STORAGE DISEASE; GOUT; HUMANS; MALE; MUSCLE WEAKNESS;

EID: 41849094469     PISSN: 07703198     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10067-007-0798-4     Document Type: Article

References (6)

1. Chou JY, Matern D, Mansfield BC et al (2002) Type I glycogen storage diseases: Disorders of the glucose-6-phosphatase complex. Curr Mol Med 2(2):121-143
2. Kishnani PS, Hwu WL, Mandel H et al (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671-676
3. Ausems MG, ten Berg K, Beemer FA (2000) Phenotypic expression of late-onset glycogen storage disease type II: Identification of asymptomatic adults through family studies and review of reported families. Neuromuscul Disord 10(7):467-471
4. Winkel LP, Hagemans ML, van Doorn PA (2005) The natural course of non-classic Pompe's disease: A review of 225 published cases. J Neurol 252(8):875-884
5. Kishnani PS, Nicolino M, Voit T et al (2006) Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 149(1):89-97
6. Van den Hout JM, Kamphoven JH, Winkel LP et al (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113(5):e448-e457