Energy metabolism during exercise in patients with β‐enolase deficiency ( GSDXIII )-Reference-Cited by-同舟云学术

Energy metabolism during exercise in patients with β‐enolase deficiency ( GSDXIII )

Published:2021-06-14 Issue:1 Volume:61 Page:60-66
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Buch Astrid Emilie¹^ORCID,Musumeci Olimpia²,Wigley Ralph³,Stemmerik Mads Peter Godtfeldt¹,Eisum Anne‐Sofie Vibæk¹,Madsen Karen Lindhardt¹,Preisler Nicolai¹,Hilton‐Jones David⁴,Quinlivan Ros⁵,Toscano Antonio²,Vissing John¹

Affiliation:

1. Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen Copenhagen Denmark

2. Neurology and Neuromuscular Disorders Unit, Department of Clinical and Experimental Medicine University of Messina Messina Italy

3. Enzyme Laboratory, Department of Chemical Pathology Cameilia Botnar Laboratories, Great Ormond Street Hospital for Sick Children London UK

4. Department of Clinical Neurology West Wing, John Radcliffe Hospital Oxford UK

5. Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Funder

Sundhed og Sygdom, Det Frie Forskningsråd

Region Hovedstaden

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12232

Reference22 articles.

1. Differential modulation of α, β and γ enolase isoforms in regenerating mouse skeletal muscle

2. Immunohistochemical demonstration of ?-enolase in human skeletal muscle

3. Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

4. ?-enolase deficiency, a new metabolic myopathy of distal glycolysis

5. The need for biochemical testing in beta‐enolase deficiency in the genomic era

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1. Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs);Biomolecules;2024-09-01

2. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07