Results 101 to 110 of about 20,098 (149)

Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)

Pediatric Neurology, 1999
The authors describe a case of hydrocephalus in an 8-month, 2-week-old infant who had been previously diagnosed with glycogen storage disease type II. Cranial imaging revealed no evidence of obstruction within the ventricular system. This case adds to the central nervous system complications associated with this disorder.
M, Sahin, A J, du Plessis
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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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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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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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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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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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Glycogen Storage Disease Type I

2009
David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Manisha Balwani, Ainu Prakash-Cheng*, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, Brigitte M. Lobnig, Brigitte M. Lobnig, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, Klaus Ruether   +99 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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Glycogen storage disease type II

2018
Rishabh Verma, Arlene Campos, Henry Knipe   +2 more
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