Results 81 to 90 of about 22,388 (216)

Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis

Children
Background: Pompe disease is a rare metabolic myopathy caused by the lack or deficiency of the lysosomal acid alpha-glucosidase, resulting in skeletal muscle weakness and cardiomyopathy.
Mu-Yun Lin, Szu-Han Chen, Jen-Ting Lee, Po-Cheng Hsu   +3 more
doaj   +1 more source

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

Study protocol to investigate the effect of a lifestyle intervention on body weight, psychological health status and risk factors associated with disease recurrence in women recovering from breast cancer treatment [PDF]

, 2006
Background Breast cancer survivors often encounter physiological and psychological problems related to their diagnosis and treatment that can influence long-term prognosis.
A Campbell, A McTiernan, A McTiernan, A Silvestri, A Visser, AB Kornblith, AC Utter, AH Wu, AJ Daley, Amanda Daley, AN Dentino, AS Fairey, AT Beck, B Dugue, B Rockhill, B Zumoff, BL Andersen, BL Gruber, BL Stauffer, BM Pinto, BS McEwen, C Peters, C Peters, C Wiltschke, CB Ebbeling, CL Caldwell, CM Bryla, CM Friedenreich, D Geffken, D Nerozzi, DC McMillan, DC Nieman, DC Nieman, DC Nieman, DC Nieman, DC Nieman, DC Nieman, DF Cella, DG Cruess, DH Bovbjerg, DM Golden-Kreutz, DV Schapira, DW Kissane, E Maunsell, EA Bermudez, G Borg, G van der Pompe, G van der Pompe, GG Kolden, H Davis, H Kervinen, HC Abercrombie, Helen Crank, Hilary Powers, HV Thomas, J Gallagher, J Kaukua, J Verloop, JA Cauley, JE Bower, JE Epping-Jordan, JF Sallis, JK Camoriano, JK Smith, JO Prochaska, John M Saxton, JR Calabrese, JS Goodwin, KL Jen, KM Rexrode, KS Courneya, KS Madden, L Bernstein, L Chang, M Maes, M Maes, M Maes, M Mezzetti, MD Gammon, MD Holmes, MD Holmes, ME Nelson, MK Baldwin, N Banu, Nanette Mutrie, Nicola Woodroofe, PJ Goodwin, RJ Benschop, Robert Coleman, RT Chlebowski, S Cohen, S Levy, S Yamasaki, SE Hankinson, SE Sephton, SI Mannering, SJ Schleifer, SJH Biddle, SK Lutgendorf, SM Levy, T Moradi, T Treasure, TA Wadden, TP Erlinger, U Ehlert, Vanessa Siddall, Y Touitou, Y Touitou, Z Djuric, Z Kronfol   +109 more
core   +4 more sources

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers

Clinical Pharmacology in Drug Development, Volume 15, Issue 3, March 2026.
Abstract Givinostat is a class I/II histone deacetylase inhibitor indicated for Duchenne muscular dystrophy (DMD). The study evaluated the effect of therapeutic and supratherapeutic givinostat doses on the QT/QTc interval. Healthy volunteers received each treatment—givinostat hydrochloride monohydrate oral suspension as a therapeutic (100 mg) or ...
Eugenio Mercuri, Barry Byrne, Tracey Willis, John Bourke, Paolo Bettica, Sara Cazzaniga, Hongqi Xue, Borje Darpo   +7 more
wiley   +1 more source

Дискретно-континуальные системы: подходы, модели, программно-модельные комплексы [PDF]

, 2015
BackgroundDiaphragm weakness is the main reason for respiratory dysfunction in patients with Pompe disease, a progressive metabolic myopathy affecting respiratory and limb-girdle muscles.
Adria Perez-Rovira (3156276), Ans T. van der Ploeg (800566), Harm A. W. M. Tiddens (697292), Katja Mogalle (3156273), Marleen de Bruijne (135634), Pierluigi Ciet (3156279), Pieter A. van Doorn (366161), Stephan C. A. Wens (3156282)   +7 more
core   +6 more sources

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease

Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019
Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was
Anna Roszmann, Mikołaj Hamerski, Marcelina Skrzypek-Czerko   +2 more
doaj   +1 more source

Adult Form of Pompe Disease

Advances in Respiratory Medicine, 2008
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased.
Ziółkowska-Graca, Bożena, Kania, Aleksander, Zwolińska, Grażyna, Niżankowska-Mogilnicka, Ewa   +3 more
openaire   +3 more sources

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Skeletal muscle metabolism during prolonged exercise in Pompe disease

Endocrine Connections, 2017
Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing   +8 more
doaj   +1 more source