Results 291 to 300 of about 56,617 (329)

The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)

Clinica Chimica Acta, 1974
Abstract The acid maltase activities of human lymphocytes and polymorphonuclear cells from controls and patients suffering from Pompe's disease, have been investigated. The effect of antibody against human liver acid maltase on leucocyte acid maltase was studied.
J F, Koster, R G, Slee, W C, Hülsmann
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Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (pompe's disease)

Clinica Chimica Acta, 1971
Abstract Two different methods, the “film technique” and the dextran method, for isolating leucocytes from human blood have been compared. Leucocytes isolated with the dextran method gave a higher specific acid maltase activity than with the “film technique”.
S R, Wyss, J F, Koster, W C, Hülsmann
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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Molecular Genetics and Metabolism, 2006
We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes. The method employs glycogen and 4-methylumbelliferyl-alpha-D-glucopyranoside (4MU-alphaGlc) as substrates for measuring the lysosomal acid alpha-glucosidase (acid alphaGlu) activity, and ...
Okumiya, T, Keulemans, JLM, Haan, Marian, van der Beek, N.A.M.E., Boer, Marijke, Takeuchi, H, Diggelen, Otto, Reuser, Arnold   +7 more
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Deletion of Exon 18 Is a Frequent Mutation in Glycogen Storage Disease Type II

Biochemical and Biophysical Research Communications, 1994
An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II. The fragment results from deletion of exon 18 and adjacent parts of intron 17 and 18. The borders of the deletion are marked by the occurrence of an eight nucleotide long tandem repeat (AGGGGCCG) which ...
M, Van der Kraan, M A, Kroos, M, Joosse, A G, Bijvoet, M P, Verbeet, W J, Kleijer, A J, Reuser   +6 more
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Evidence for a Founder Effect in Sicilian Patients with Glycogen Storage Disease Type II

Human Heredity, 2000
Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid α-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (Δ18) is a frequent mutation associated with a severe phenotype.
F, Dagnino, M, Stroppiano, S, Regis, G, Bonuccelli, M, Filocamo   +4 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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Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

Pediatric Anesthesia, 2004
SummaryPompe or Glycogen Storage Disease type II (GSD‐II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure.
Richard J, Ing, D Ryan, Cook, Resai A, Bengur, Eric A, Williams, John, Eck, Guy de L, Dear, Allison K, Ross, Frank H, Kern, Priya S, Kishnani   +8 more
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Glycogen Storage Disease, Types II, III, VIII, and IX

American Journal of Diseases of Children, 1966
CORI DIVIDED the syndrome of glycogen storage disease into various types according to the enzymatic deficiency involved. 1 This classification has three immediate advantages. It rests on the most basic, most precise, and least overlapping parameter known at the present time.
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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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ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE).

Middle East journal of anaesthesiology, 2016
Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence ...
Abdulaleem, Al Atassi, Nezar, Al Zughaibi, Anas, Naeim, Abdulatif, Al Basha, Vassilios, Dimitriou   +4 more
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