Article
Diagnosis of glycogenosis type II.
Neurology - 2 Dec 2008
Bembi B, Cerini E, Danesino C, Donati M A, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A
Abstract excerpt
The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as a continuum of clinical phenotypes, which vary with respect to organ involvement, age at onset, and severity. Early diagnosis requires both increased awareness among...
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