Differential Diagnosis and Potential Misdiagnoses of Pompe Disease

Clinical Therapeutics

Volumn 30, Issue SUPPL. 1, 2008, Pages S6-

  Straub, Volker ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; AWARENESS; BECKER MUSCULAR DYSTROPHY; CARDIOMYOPATHY; DANON DISEASE; DELAYED DIAGNOSIS; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DUCHENNE MUSCULAR DYSTROPHY; EARLY DIAGNOSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT DISEASE; INFANTILE HYPOTONIA; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOCARDITIS; NEMALINE MYOPATHY; NEUROMUSCULAR DISEASE;

EID: 40749109829     PISSN: 01492918     EISSN: 1879114X     Source Type: Journal    
DOI: 10.1016/S0149-2918(08)80021-5     Document Type: Article

References (4)

1. Kishnani P., Steiner R., Bali D., et al. Pompe disease diagnosis and management guideline [published correction appears in GenetMed. 2006;8:382]. GenetMed 8 (2006) 267-288
2. Lotz B. Neuromuscular Function and Disease: Basic, Clinical, and Electrodiagnostic Aspects 2 (2002), WB Saunders Company, Philadelphia, Pa 143-145
3. MÜller-Felber W., Horvath R., Gempel K., et al. Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 17 (2007) 698-706
4. Schoser B., MÜller-HÖcker J., Horvath R., et al. Adult-onset glycogen storage disease type 2: Clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 33 (2007) 544-559