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Cardiomyopathy in Pompe's disease
European Journal of Internal Medicine, 2008Pompe's disease (glycogen storage disease type II) is a lysosomal storage disorder resulting from a deficiency in alpha 1, 4 glucosidase. Prognosis is poor because of heart involvement. Treatment in adult form relies on supportive therapy. Enzyme replacement therapy with recombinant human alpha glucosidase remains a hope for patients.
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2016
Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including ...
Ans T. van der Ploeg, Pascal Laforêt
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Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including ...
Ans T. van der Ploeg, Pascal Laforêt
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Molecular Genetics and Metabolism, 2007
Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.
Geel, T. M. +4 more
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Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.
Geel, T. M. +4 more
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Mitochondrial activity in pompe’s disease
Pediatric Neurology, 2000Mitochondrial oxidative metabolism was examined in two infants with Pompe's disease. The clinical diagnosis was confirmed by the demonstration of intralysosomal glycogen accumulation and a deficiency of acid alpha-D-glucosidase in muscle biopsies.
M A, Selak +5 more
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The conduction system in Pompe's disease
Pediatric Cardiology, 1982We report our findings in the microscopic examination of the conduction system in four infants with glycogen storage disease, one of whom had adequate electrophysiologic studies. The electrophysiologic studies in the latter case showed P-A and A-H intervals at the lower limits of normal, but the H-V interval was just above the normal mean.
S, Bharati +7 more
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Pompe disease in infants and children
The Journal of Pediatrics, 2004Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder caused by a deficiency of acid α-glucosidase (GAA, also referred to as acid maltose). 1 This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle
Priya Sunil, Kishnani, R Rodney, Howell
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Pompe disease and physical disability
Developmental Medicine & Child Neurology, 2003This 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 +2 more
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