Results 181 to 190 of about 8,917 (217)
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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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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
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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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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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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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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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Archives of Neurology, 1970
GENERALIZED glycogen storage disease (Pompe's disease or type II glycogenosis) is a fatal disease characterized during life by marked generalized muscular hypotonia, plus central nervous system and myocardial dysfunction. The disease process is due to, or at least associated with an absence of alpha 1-4 glucosidase (acid maltase), apparently inherited ...
J M, Bordiuk +3 more
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GENERALIZED glycogen storage disease (Pompe's disease or type II glycogenosis) is a fatal disease characterized during life by marked generalized muscular hypotonia, plus central nervous system and myocardial dysfunction. The disease process is due to, or at least associated with an absence of alpha 1-4 glucosidase (acid maltase), apparently inherited ...
J M, Bordiuk +3 more
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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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