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The Lancet, 2008
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage.
Ans T, van der Ploeg, Arnold J J, Reuser
exaly +7 more sources
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage.
Ans T, van der Ploeg, Arnold J J, Reuser
exaly +7 more sources
Archives of Neurology, 2000
Over the past 25 years, the widespread application of genetic and biochemical techniques has revolutionized the way physicians, particularly neurologists, characterize and even name diseases. Pompe's disease, or glycogen storage disease type II, provides an excellent illustration of how an understanding of the molecular basis of a disease alters ...
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Over the past 25 years, the widespread application of genetic and biochemical techniques has revolutionized the way physicians, particularly neurologists, characterize and even name diseases. Pompe's disease, or glycogen storage disease type II, provides an excellent illustration of how an understanding of the molecular basis of a disease alters ...
openaire +2 more sources
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
openaire +1 more source
Pompe disease misdiagnosed as polymyositis
Practical Neurology, 2023Late-onset Pompe disease manifests predominantly in the proximal lower limbs and may be mistaken for an inflammatory myopathy. A 46-year-old man with acromegaly had an 8-year history of progressive weakness. His myopathy was initially attributed to the acromegaly, but severe progression prompted a muscle biopsy, which suggested an inflammatory myopathy.
Antonio Edvan Camelo-Filho +4 more
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Pompe's disease and anaesthesia
Anaesthesia, 1986Summary A case report of a child with Pompe's disease (glycogen storage disease Cori type II), who underwent two general anaesthetics, is presented. The progressive infiltration of heart and skeletal muscle with glycogen results in a severe form of cardiomyopathy and respiratory muscle weakness.
H J, McFarlane, N, Soni
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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
openaire +1 more source
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
openaire +1 more source