Results 101 to 110 of about 19,271 (154)

Enzyme patterns in glycogen storage disease type II (Pompe's disease)

Metabolism, 1966
Abstract A case of type II glycogen storage disease was biochemically diagnosed during life. Heart and skeletal muscle, and the glia and neurons of the central nervous system showed remarkable change, presumably the result of glycogen deposition. A virtual absence of α-glucosidase was observed in heart and skeletal muscle, liver, thyroid and adrenal ...
G, Mekanik, R L, Smith, R M, MacLeod
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Evidence of cardiomyocyte necrosis in glycogen storage disease type II

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2007
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved.
David C, Gaze, Graham J, Lawson, Adam, Harris, Paul O, Collinson   +3 more
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l-alanine supplementation in late infantile glycogen storage disease type II

Pediatric Neurology, 2002
We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely.
Bodamer, OA, Haas, D, Hermans, MMP (Monique), Reuser, Arnold, Hoffmann, GF   +4 more
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First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III

Journal of Inherited Metabolic Disease, 1989
Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases.
Y S, Shin, M, Rieth, J, Tausenfreund, W, Endres   +3 more
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A diagnostic protocol for adult-onset glycogen storage disease type II

Neurology, 1999
To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a clinical, biochemical, and genetic study of 18 patients with this disease. Measurement of acid alpha-glucosidase (GAA) activity in muscle and histopathologic analysis of muscle tissue appeared to have
Ausems, M.G.E.M., Lochman, P, van Diggelen, O.P., Ploos van Amstel, J.K., Reuser, A.J.J., Wokke, J.H.J.   +5 more
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Echocardiographic features in the cardiac type of glycogen storage disease II

European Heart Journal, 1983
Clinical and echocardiographic findings of a six-month-old female with the cardiac variety of glycogen storage disease II type (Pompe's disease) are described. Obviously thickened right and left ventricular walls were detected with both M-mode and two-dimensional echocardiography.
W J, Gussenhoven, H F, Busch, W J, Kleijer, V H, de Villeneuve   +3 more
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Glycogen storage disease type II in Israel.

Israel journal of medical sciences, 1988
Eighteen patients with alpha-glucosidase deficiency have been diagnosed in Israel during the last 15 years. All patients were Palestinian Arabs, with the exception of two siblings from a Jewish Iraqi family. Clinically all patients had the infantile type (Pompe's disease), except one who had the juvenile type.
N, Bashan, R, Potashnik, V, Barash, A, Gutman, S W, Moses   +4 more
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Glycogen Storage Disease Type II Diagnosed in a 74‐Year‐Old Woman

Journal of the American Geriatrics Society, 2004
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BOSONE I, VERCELLI L, MONGINI, Tiziana Enrica, CHIADO'-PIAT, Loredana, VITTONATTO, ELISA, PALMUCCI, Laura Maria, SERVIDEI S, SILVESTRI G.   +7 more
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Glycogen storage disease type II: clinical overview.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2008
Glycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life.
M, Di Rocco, D, Buzzi, M, Tarò
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Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease)

Journal of Inherited Metabolic Disease, 1984
AbstractThe pathology of canine glycogen storage disease type II (acid α‐glucosidase deficiency, GSD II) was studied in three genetically related Lapland dogs and compared to the pathology of human GSD II (McKusick 23230). Canine GSD II closely parallels the infantile form of the human disease, except for the presence of oesophageal dilatation ...
Walvoort, HC, Dormans, JAMA, van den Ingh, ThSGAM   +2 more
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