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 Clinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe’s disease

2011 ◽  
Vol 152 (39) ◽  
pp. 1569-1575
Author(s):  
Benjamin Bereznai ◽  
Anita Trauninger ◽  
Ilona György ◽  
Katalin Szakszon ◽  
Zsuzsanna Almássy ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Age Of Onset ◽  
Late Onset ◽  
Phenotypic Variability ◽  
Motor Deficits ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Long Term Follow Up

Pompe’s disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. Aims and Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe’s disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. Conclusions: Hungarian patients with Pompe’s disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients. Orv. Hetil., 2011, 152, 1569–1575.

Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy

2011 ◽  
Vol 33 (6) ◽  
pp. S38
Author(s):  
Fidjy Rodrigues ◽  
Catarina Vaz ◽  
Fátima Martins ◽  
Luísa Diogo ◽  
Paula Garcia
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Enzyme Replacement

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

2003 ◽  
Vol 27 (6) ◽  
pp. 743-751 ◽  
Author(s):  
L�on P. F. Winkel ◽  
Joep H. J. Kamphoven ◽  
Hannerieke J. M. P. Van Den Hout ◽  
Lies A. Severijnen ◽  
Pieter A. Van Doorn ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Muscle Tissue ◽  
Morphological Changes ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease

Muscular Strength and Function in Late-Onset Pompe Disease: Five-Year Follow-Up of Patients Receiving Enzyme Replacement Therapy

2011 ◽  
Vol 33 (6) ◽  
pp. S37
Author(s):  
Paula Garcia ◽  
Rui Castelo ◽  
Mafalda Barbosa ◽  
Henriqueta Araujo ◽  
Vera Ribeiro ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Muscular Strength ◽  
Late Onset ◽  
Enzyme Replacement ◽  
And Function

36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry

2018 ◽  
Vol 265 (12) ◽  
pp. 2783-2788 ◽  
Author(s):  
Olivier Scheidegger ◽  
Daniela Leupold ◽  
Rafael Sauter ◽  
Oliver Findling ◽  
Kai Michael Rösler ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement
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