G.P.8.03 Misleading muscle biopsies in late onset Pompe’s disease

2009 ◽  
Vol 19 (8-9) ◽  
pp. 591-592 ◽  
Author(s):  
A.L. Taratuto ◽  
A. Dubrovsky ◽  
J. Corderi
Keyword(s):  
Late Onset ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Muscle Biopsies

Late-Onset Pompe's Disease

2013 ◽  
Vol 32 (05) ◽  
pp. 506-511 ◽  
Author(s):  
James Teener
Keyword(s):  
Late Onset ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals A Senile Case of Late-onset Pompe's Disease

2016 ◽  
Vol 55 (18) ◽  
pp. 2723-2725
Author(s):  
Hiroki Takano ◽  
Tomohiko Ishihara ◽  
Motomichi Kosuga ◽  
Torayuki Okuyama
Keyword(s):  
Late Onset ◽  
Pompe’S Disease ◽  
Pompe's Disease

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

2010 ◽  
Vol 362 (15) ◽  
pp. 1396-1406 ◽  
Author(s):  
Ans T. van der Ploeg ◽  
Paula R. Clemens ◽  
Deyanira Corzo ◽  
Diana M. Escolar ◽  
Julaine Florence ◽  
...  
Keyword(s):  
Late Onset ◽  
Randomized Study ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Alglucosidase Alfa

Biosynthesis of acid α-glucosidase in late-onset forms of glycogenosis type II (Pompe's disease)

FEBS Letters ◽  
1982 ◽  
Vol 150 (1) ◽  
pp. 69-76 ◽  
Author(s):  
Friedhelm Steckel ◽  
Volkmar Gieselmann ◽  
Abdul Waheed ◽  
Andrej Hasilik ◽  
Kurt von Figura ◽  
...  
Keyword(s):  
Late Onset ◽  
Type Ii ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Late-onset Pompe's disease in a hemodialysis patient: A first case report

2017 ◽  
Vol 22 (2) ◽  
pp. E23-E25
Author(s):  
Theodoros Eleftheriadis ◽  
Panagiota Makri ◽  
Paschalia Karakosta ◽  
Georgios Pissas ◽  
Vassilios Liakopoulos ◽  
...  
Keyword(s):  
Case Report ◽  
Hemodialysis Patient ◽  
Late Onset ◽  
Pompe’S Disease ◽  
First Case ◽  
Pompe's Disease

Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

2004 ◽  
Vol 55 (4) ◽  
pp. 495-502 ◽  
Author(s):  
L�on P. F. Winkel ◽  
Johanna M. P. Van den Hout ◽  
Joep H. J. Kamphoven ◽  
Janus A. M. Disseldorp ◽  
Maaike Remmerswaal ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals Calf muscle hypertrophy in late onset pompe's disease

2016 ◽  
Vol 4 (2) ◽  
pp. 251
Author(s):  
MSuraj Menon ◽  
PSreedharan Roopch ◽  
KAbdulkhayar Kabeer ◽  
CVelayudhan Shaji
Keyword(s):  
Muscle Hypertrophy ◽  
Late Onset ◽  
Calf Muscle ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals Clinical Analysis of Algerian Patients with Pompe Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-7
Author(s):  
Y. Sifi ◽  
M. Medjroubi ◽  
R. Froissart ◽  
N. Taghane ◽  
K. Sifi ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Pompe Disease ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Late Onset ◽  
Disease Onset ◽  
Dried Blood Spots ◽  
Clinical Analysis ◽  
Pompe’S Disease ◽  
Pompe's Disease

Pompe’s disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe’s disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe’s disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe’s disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe’s disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n=4). Our results are similar to other ethnic groups.

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