Results 191 to 200 of about 22,388 (216)

Pompe disease and physical disability

Developmental Medicine & Child Neurology, 2003
This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease‐specific functional instrument.
Stephen M, Haley, Maria A, Fragala, Alison M, Skrinar   +2 more
openaire   +2 more sources

Late-Onset Pompe's Disease

Seminars in Neurology, 2013
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset ...
openaire   +2 more sources

Pompe's disease

Neurology, 1969
G R, Hogan, L, Gutmann, R, Schmidt, E, Gilbert   +3 more
openaire   +2 more sources

alpha-Glucosidase deficiency (Pompe's disease).

Enzyme, 1987
alpha-Glucosidase is deficient (less than 30% of control) in Pompe's disease, but the extent of the deficiency does not always correlate with the severity of the clinical symptoms. The defects that lead to a deficiency of alpha-glucosidase include synthesis of catalytically inactive protein, absence of mRNA for the enzyme, decreased synthesis of the ...
Tager, J. M., Oude Elferink, R. P., Reuser, A., Kroos, M., Ginsel, L. A., Fransen, J. A., Klumperman, J.   +6 more
openaire   +2 more sources

Pompe disease

Medicina Clínica (English Edition)
José César, Milisenda, Ana, Matas-García   +1 more
openaire   +3 more sources

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

New England Journal of Medicine, 2022
Jennifer L Cohen, Marisa E Schwab
exaly  

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

New England Journal of Medicine, 2010
Ans T Van Der Ploeg, Paula R Clemens, Geert Jan Groeneveld   +2 more
exaly  

Recombinant human α-glucosidase from rabbit milk in Pompe patients

Lancet, The, 2000
Ans T Van Der Ploeg
exaly  

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

New England Journal of Medicine, 2009
Nancy J Mendelsohn
exaly  

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Nina Raben
exaly