Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy

Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy

Case Reports Two men are described with late onset acid maltase deficiency and delay from clinical onset to diagnosis of 38 and 30 years, respectively, based on reduced alpha-glucosidase activity on a dried blood spot.

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Bibliographische Detailangaben
Veröffentlicht in:Clinical therapeutics 2011-06, Vol.33 (6), p.S24-S24
Hauptverfasser: Corbett, Alastair, Brammah, Susan, Wang, Min-Xia, Pamphlett, Roger
Format: Artikel
Sprache:eng
Schlagworte:
Disease
Internal Medicine
Medical diagnosis
Medical Education
Muscular system
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Beschreibung
Zusammenfassung:Case Reports Two men are described with late onset acid maltase deficiency and delay from clinical onset to diagnosis of 38 and 30 years, respectively, based on reduced alpha-glucosidase activity on a dried blood spot.
ISSN:0149-2918
1879-114X
DOI:10.1016/j.clinthera.2011.05.065