Novel mutations in the <scp> <i>HADHB</i> </scp> gene causing a mild phenotype of mitochondrial trifunctional protein ( <scp>MTP</scp> ) deficiency-Reference-Cited by-同舟云学术

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein ( MTP ) deficiency

Published:2022-03 Issue:3 Volume:63 Page:193-198
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Ørstavik Kristin¹^ORCID,Arntzen Kjell Arne²,Mathisen Per³,Backe Paul Hoff⁴⁵,Tangeraas Trine⁶,Rasmussen Magnhild¹⁷,Kristensen Erle⁸,Van Ghelue Marijke⁹,Jonsrud Christoffer⁹,Bliksrud Yngve Thomas⁸

Affiliation:

1. Department of Neurology, Section for Rare Neuromuscular disorders and EMAN Oslo University Hospital, Rikshospitalet Oslo Norway

2. National Neuromuscular Centre Norway and Department of Neurology University Hospital of North Norway Tromsø Norway

3. Department of Cardiology Oslo University Hospital, Rikshospitalet Oslo Norway

4. Department of Microbiology Oslo University Hospital, Rikshospitalet and University of Oslo Oslo Norway

5. Department of Medical Biochemistry Institute for Clinical Medicine, University of Oslo Oslo Norway

6. Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine Oslo University Hospital Oslo Norway

7. Department of Clinical Neurosciences for Children Oslo University Hospital, Rikshospitalet Oslo Norway

8. Department of Medical Biochemistry Oslo University Hospital, Rikshospitalet Oslo Norway

9. Department of Medical Genetics, Division of Child and Adolescent Health University Hospital of North Norway Tromsø Norway

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12276

Reference21 articles.

1. General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either α- or β-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover

2. HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

3. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

4. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

5. Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. VEGF-B hypertrophy predisposes to transition from diastolic to systolic heart failure in hypertensive rats;Cardiovascular Research;2023-03-23