The need for biochemical testing in beta‐enolase deficiency in the genomic era-Reference-Cited by-同舟云学术

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

Published:2019-09-03 Issue:1 Volume:50 Page:40-43
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Wigley Ralph¹,Scalco Renata S.²³,Gardiner Alice R.²,Godfrey Richard²⁴,Booth Suzanne²,Kirk Richard⁵,Hilton‐Jones David⁶,Houlden Henry²,Heales Simon¹,Quinlivan Ros²⁷

Affiliation:

1. Enzyme Laboratory, Department of Chemical Pathology, Cameilia Botnar LaboratoriesGreat Ormond Street Hospital for Sick Children London UK

2. MRC Centre for Neuromuscular Diseases and Department of Molecular NeuroscienceUniversity College London Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK

3. CAPES FoundationMinistry of Education Brazil

4. Centre for Human Performance, Exercise and RehabilitationBrunel University London Uxbridge UK

5. Sheffield Diagnostic Genetic ServiceSheffield Children's NHS Foundation Trust Sheffield UK

6. Department of Clinical NeurologyWest Wing, John Radcliffe Hospital Oxford UK

7. Dubowitz Neuromuscular CentreGreat Ormond Street Hospital for Children, NHS Foundation Trust London UK

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12070

Reference5 articles.

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

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

3. Rhabdomyolysis: a genetic perspective

4. Measurement of protein using bicinchoninic acid

5. A non-ischemic forearm exercise test for the screening of patients with exercise intolerance

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