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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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Seminars in Neurology, 2013
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset ...
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Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset ...
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alpha-Glucosidase deficiency (Pompe's disease).
Enzyme, 1987alpha-Glucosidase is deficient (less than 30% of control) in Pompe's disease, but the extent of the deficiency does not always correlate with the severity of the clinical symptoms. The defects that lead to a deficiency of alpha-glucosidase include synthesis of catalytically inactive protein, absence of mRNA for the enzyme, decreased synthesis of the ...
Tager, J. M. +6 more
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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease
New England Journal of Medicine, 2022Marisa E Schwab
exaly