Results 201 to 210 of about 44,570 (243)

A juvenile variant of glycogenosis IV (Andersen disease)

European Journal of Pediatrics, 1986
An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.
O P Van Diggelen, Fatima Carneiro
exaly   +3 more sources

An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd

Neuromuscular Disorders, 2020
A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome.
Shougang Guo
exaly   +3 more sources

Ventricular bigeminy characterization in 24-h Holter monitoring from Andersen-Tawil patients: An initial proof of concept versus patients with ischemic heart disease

Journal of Electrocardiology, 2023
To characterize ventricular bigeminy from 24-h Holter recordings of Andersen-Tawil syndrome (ATS) patients, a first comparison with a large database of post-myocardial infarction (post-MI) patients with frequent premature ventricular complexes (PVC) was performed.Baseline Holter recordings from 6 ATS1 patients and 618 post-MI patients were analyzed to ...
Claudia Lerma
exaly   +3 more sources

Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in Andersen–Tawil syndrome

International Journal of Cardiology, 2015
Armando Totomoch-Serra, Manuel Cárdenas   +1 more
exaly   +2 more sources

Andersen Disease

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 more
exaly   +2 more sources

Andersen-Tawil Syndrome Associated with Cerebral Cavernoma: Challenge and Diagnostic Delay of a Multisystemic Disease

SciBase Neurology, 2023
Introduction: Andersen-Tawil Syndrome (ATS) is a rare dominantly inherited disorder caused by mutations in the KCNJ2 gene; it presents with cardiac arrhythmias and periodic muscle ...
openaire   +1 more source

Mild hydrops as a feature of Glycogen Storage Disease Type IV (Andersen Disease) confirmed by biopsy and enzymatic activity

Journal of Neonatal-Perinatal Medicine, 2008
Glycogen Storage Disease Type IV (Andersen Disease) is a rare autosomal recessive condition presenting with severe hypotonia and areflexia in all extremities [1]. Survival for this condition has been reported between 0 day and 5 weeks. Most reported cases are of slightly premature children (average gestational age 36 weeks) presenting with hypotonia ...
Shetal Shah, Arthur Hays, Amy Yang, Edith Mccarthy   +3 more
openaire   +1 more source

Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease)

Pediatric and Developmental Pathology
Glycogen storage disease type IV (Andersen disease) is caused by a deficiency of the glycogen branching enzyme. We report a case in which liver biopsy played a key role in establishing the diagnosis. A 2-year-old girl presented to our hospital with hepatomegaly. Despite extensive testing, no definitive diagnosis was made, prompting
Ryou Ishikawa, Takeo Kondo, Sonoko Kondo, Tomohiro Kishimoto, Seiko Kagawa, Reiji Haba   +5 more
openaire   +1 more source

Glycogenosis Type 4, Andersen Disease

2017
This is a rare metabolic disease presenting with various phenotypes, which account for less than 1% of all glycogen storage diseases (GSD).
openaire   +1 more source

An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

Journal of the neurological sciences, 1983
A middle-aged man presented with a thirty-year history of progressive, asymmetrical limb-girdle weakness. The muscle biopsy revealed a vacuolar myopathy. The vacuoles which did not disrupt the fibre outline, lay in a subsarcolemmal position. They were PAS-positive and the material was partially resistant to diastase digestion.
I T, Ferguson, M, Mahon, W J, Cumming
openaire   +1 more source