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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
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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
+6 more sources
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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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
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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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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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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Newborn Screening for Pompe Disease
Pediatrics, 2017Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality.
Olaf A, Bodamer +2 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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