The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein-Reference-Cited by-同舟云学术

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

Published:2021-03-10 Issue:4 Volume:44 Page:893-902
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Grünert Sarah C.¹^ORCID,Eckenweiler Matthias²,Haas Dorothea³,Lindner Martin⁴,Tsiakas Konstantinos⁵,Santer René⁵,Tucci Sara¹,Spiekerkoetter Ute¹

Affiliation:

1. Department of General Pediatrics Adolescent Medicine and Neonatology, Medical Center‐University of Freiburg, Faculty of Medicine Freiburg Germany

2. Department of Neuropediatrics and Muscle Disorders University Medical Center, Faculty of Medicine, University of Freiburg Freiburg Germany

3. Department of Neuropediatrics and Pediatric Metabolic Medicine Center for Child and Adolescent Medicine, University Hospital Heidelberg Heidelberg Germany

4. Department of Pediatric Neurology University Children's Hospital Frankfurt/Main Germany

5. Department of Pediatrics University Medical Center Eppendorf Hamburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12372

Reference22 articles.

1. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha‐ and beta‐subunits;Ushikubo S;Am J Hum Genet,1996

2. Crystal structure of human mitochondrial trifunctional protein, a fatty acid β-oxidation metabolon

3. Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement

4. Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients

5. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

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