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Results for
""Glycogen Storage Disease""[mesh_terms]

187 Results

Searching titles within these results

Glycogen storage diseases.

William B Hannah, Terry G J Derks, Mitchell L Drumm, Sarah C Grünert, Priya S Kishnani, John Vissing

Nature reviews. Disease primers 2023;9(1):46

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Abstract

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Renata S Scalco, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C Voermans, Carlyn V Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost, Sabrina Sacconi, Mads G Stemmerik, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing

Orphanet journal of rare diseases 2021;15(1):330

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Secondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature.

Anshita Aggarwal, Deepika Patel, Bindu Kulshreshtha

Pediatric endocrinology, diabetes, and metabolism 2022;27(4):283-286

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Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana

Orphanet journal of rare diseases 2022;17(1):241

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Abstract

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Renata S Scalco, Alejandro Lucia, Alfredo Santalla, Antonio Toscano, Olimpia Musumeci, Gabriele Siciliano, Enrico Kühnle, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Tomàs Pinós, Ramon Marti, Ros Quinlivan, Walaa Karazi, Mads G Stemmerik, Nicoline Løkken, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Carlyn V Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Rebecca Trost, Antoni L Andreu, John Vissing, Nicol C Voermans

Orphanet journal of rare diseases 2023;18(1):210

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Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Charles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, Sophie Berenguer-Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva-Bourdain, Roseline Froissart, Magali Pettazzoni

Journal of inherited metabolic disease 2024;47(2):255-269

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Update on glycogen storage disease: primary hepatic involvement.

Tiffany L Freeney Wright, Luis A Umaña, Charina M Ramirez

Current opinion in pediatrics 2022;34(5):496-502

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Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

Jan Peter Rake, Gepke Visser, Philippe Labrune, James V Leonard, Kurt Ullrich, G Peter A Smit

European journal of pediatrics 2003;161 Suppl 1():S112-9

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Abstract

Autophagic vacuolar myopathies.

Ichizo Nishino

Current neurology and neuroscience reports 2003;3(1):64-9

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McArdle disease: what do neurologists need to know?

Alejandro Lucia, Gisela Nogales-Gadea, Margarita Pérez, Miguel A Martín, Antoni L Andreu, Joaquín Arenas

Nature clinical practice. Neurology 2008;4(10):568-77

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Glycogen storage diseases: new perspectives.

Hasan Ozen

World journal of gastroenterology 2007;13(18):2541-53

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Skeletal muscle disorders of glycogenolysis and glycolysis.

Richard Godfrey, Ros Quinlivan

Nature reviews. Neurology 2018;12(7):393-402

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Glucose-6-phosphatase deficiency.

Roseline Froissart, Monique Piraud, Alix Mollet Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Trioche Eberschweiler, Vincent Gajdos, Philippe Labrune

Orphanet journal of rare diseases 2011;6():27

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The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

Stacey L Reason, Richard J Godfrey

Current opinion in endocrinology, diabetes, and obesity 2021;27(5):283-290

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The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Anne Roscher, Jaina Patel, Stacy Hewson, Laura Nagy, Annette Feigenbaum, Jonathan Kronick, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Saadet Mercimek-Mahmutoglu

Molecular genetics and metabolism 2015;113(3):171-6

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Results: 1 – 15 / 187

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Results for ""Glycogen Storage Disease""[mesh_terms]

Glycogen storage diseases.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Secondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Update on glycogen storage disease: primary hepatic involvement.

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

Autophagic vacuolar myopathies.

McArdle disease: what do neurologists need to know?

Glycogen storage diseases: new perspectives.

Skeletal muscle disorders of glycogenolysis and glycolysis.

Glucose-6-phosphatase deficiency.

The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII.

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Results for
""Glycogen Storage Disease""[mesh_terms]