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Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)
Clinical Genetics, 1981 In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of a muscle biopsy (including light‐microscopy, histochemistry ...M C B Loonen, J F Koster, M F Niermeijerexaly +3 more sourcesDietary treatment in late-onset acid maltase deficiency
European Journal of Pediatrics, 1997 Late-onset acid maltase deficiency or glycogen storage disease type II (GSD II) is a rare disorder of intralysosomal glycogen metabolism, resulting in progressive myopathy that is secondary to increased muscle protein breakdown. Stable isotope studies in the postabsorptive state have confirmed that mean protein breakdown in GSD II is increased by 31 ...O A F Bodamer, Halliday Dexaly +3 more sourcesFrequent mutations in Japanese patients with acid maltase deficiency
Neuromuscular Disorders, 2000 We screened 22 Japanese patients with acid maltase deficiency (seven with the infantile type, eight with the juvenile type and seven with the adult type) for three previously described mutations, D645E, S529V and R672Q, and a novel mutation, R600C. Although D645E has been reported to be common in Chinese patients with the infantile type, only three of ...Seiichi Tsujino, Naomi Kanazawa, Hideo Sugie +2 moreexaly +3 more sourcesAdult-Onset Acid Maltase Deficiency
Archives of Neurology, 1984 Electrophysiological studies were performed on aneurally cultured muscle cells from one patient with adult-onset acid maltase deficiency (AAMD) and from controls. The cells from the patient with AAMD had a higher mean resting membrane potential, a lower input resistance, and a higher incidence of action potentials at resting membrane potential than the A J, Tahmoush, V, Askanas, P G, Nelson, W K, Engel +3 moreopenaire +3 more sourcesAcid Maltase Deficiency
, 2009 Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan +199 moreopenaire +2 more sources
