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Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families
Neuromuscular Disorders
◽
10.1016/s0960-8966(00)00123-1
◽
2000
◽
Vol 10
(7)
◽
pp. 467-471
◽
Cited By ~ 22
Author(s):
Margreet G.E.M Ausems
◽
Klara ten Berg
◽
Frits A Beemer
◽
John H.J Wokke
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
◽
Late Onset
◽
Family Studies
◽
Phenotypic Expression
◽
Glycogen Storage Disease Type
◽
Glycogen Storage
◽
Disease Type
◽
Type Ii
Download Full-text
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Alglucosidase alfa effectively improves functional aspects of late-onset glycogen storage disease type II
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◽
10.2165/00128413-200816190-00039
◽
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◽
Vol &NA;
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◽
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Keyword(s):
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First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation
Journal of Neuromuscular Diseases
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10.3233/jnd-159024
◽
2015
◽
Vol 2
(s1)
◽
pp. S26-S26
Author(s):
S.S. Nikitin
◽
M.O. Kovalchuk
◽
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◽
I.V. Khoroshaya
Keyword(s):
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Molecular diagnosis of German patients with late-onset glycogen storage disease type II
Journal of Inherited Metabolic Disease
◽
10.1007/s10545-008-0820-2
◽
2008
◽
Vol 31
(S2)
◽
pp. 261-265
◽
Cited By ~ 31
Author(s):
P. R. Joshi
◽
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◽
S. Schmidt
◽
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◽
M. Winterholler
◽
...
Keyword(s):
Glycogen Storage Disease
◽
Molecular Diagnosis
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Storage Disease
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◽
Glycogen Storage
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Disease Type
◽
Type Ii
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Two new missense mutations of GAA in late onset glycogen storage disease type II
Journal of the Neurological Sciences
◽
10.1016/j.jns.2006.09.012
◽
2006
◽
Vol 251
(1-2)
◽
pp. 113-117
◽
Cited By ~ 11
Author(s):
Young-Eun Park
◽
Kyu-Hyun Park
◽
Chang-Hoon Lee
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Cheol-Min Kim
◽
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Keyword(s):
Glycogen Storage Disease
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Storage Disease
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Late Onset
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Glycogen Storage Disease Type
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Glycogen Storage
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Disease Type
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Type Ii
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The effects of L-alanine supplementation in late-onset glycogen storage disease type II
Neurology
◽
10.1212/wnl.55.5.710
◽
2000
◽
Vol 55
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◽
pp. 710-712
◽
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O. A. F. Bodamer
◽
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◽
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Late Onset
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Glycogen Storage
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Type Ii
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Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis
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◽
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◽
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◽
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◽
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◽
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◽
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◽
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Storage Disease
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Glycogen Storage
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Late onset glycogen storage disease Type II with “reducing body”-like inclusions
Clinical Neuropathology
◽
10.5414/npp29036
◽
2010
◽
Vol 29
(01)
◽
pp. 36-40
◽
Cited By ~ 1
Author(s):
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◽
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◽
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◽
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◽
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Late Onset
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Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II
Human Mutation
◽
10.1002/humu.20374
◽
2006
◽
Vol 27
(10)
◽
pp. 999-1006
◽
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◽
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Glycogen Storage Disease
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Storage Disease
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◽
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Novel Mutations in the Gene Encoding Acid α-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence
Internal Medicine
◽
10.2169/internalmedicine.50.5563
◽
2011
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◽
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Cited By ~ 4
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Glycogen Storage Disease
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Pompe Disease
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Storage Disease
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Late Onset
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◽
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◽
Novel Mutations
◽
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Orphan designation: miglustat, Treatment of glycogen storage disease type II (Pompe's disease)
Case Medical Research
◽
10.31525/cmr-ea52d0
◽
2019
◽
Author(s):
Keyword(s):
Glycogen Storage Disease
◽
Storage Disease
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◽
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◽
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Orphan Designation
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Pompe’S Disease
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