Results 31 to 40 of about 56,617 (329)
Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (<i>Coturnix japonica</i>). [PDF]
Genes (Basel)Faruq AA +9 more
europepmc +3 more sources
Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]
Iranian Journal of Neonatology, 2022 Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe +4 more
doaj +1 more source
Health Technology AssessmentBackground Late-onset Pompe disease is a rare inherited genetic condition that causes progressive muscle dysfunction and damage. As the disease advances, the progressive weakening of respiratory muscles significantly increases the risk of respiratory ...
Mark Corbett +9 more
doaj +2 more sources
Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]
PLoS ONE, 2013 Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor +6 more
doaj +1 more source
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
Biomolecules, 2020 Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj +1 more source
Glycogen storage disease type II in the Lapland dog
Veterinary Quarterly, 1985 A newly recognized inherited metabolic disease in the Lapland dog is described. The metabolic defect is a deficiency of acid-alpha-glucosidase, a lysosomal hydrolase. The clinical picture is dominated by vomiting related to megaoesophagus, and progressive muscle weakness leading to exhaustion and death before two years of age. Cardiac abnormalities are
Walvoort, HC
openaire +4 more sources
Glycogen storage disease types I and II: Treatment updates [PDF]
Journal of Inherited Metabolic Disease, 2007 AbstractPrior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long‐term complications of GSD type I (GSD I) have not responded to dietary therapy with ...
D D, Koeberl, P S, Kishnani, Y T, Chen
openaire +2 more sources
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter [PDF]
Molecular Therapy, 2005 Baodong Sun, Dwight D Koeberl
exaly +2 more sources
Glycogenosis type II (acid maltase deficiency) [PDF]
, 1995 Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen.
Bijvoet, A.G.A. (Agnes) +7 more
core +1 more source