MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects-Reference-Cited by-同舟云学术

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Published:2018-01-13 Issue:4 Volume:39 Page:461-470
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

El-Hattab Ayman W.¹^ORCID,Wang Julia²,Dai Hongzheng³,Almannai Mohammed⁴,Staufner Christian⁵,Alfadhel Majid⁶,Gambello Michael J.⁷,Prasun Pankaj⁸,Raza Saleem⁹,Lyons Hernando J.⁹,Afqi Manal⁴,Saleh Mohammed A. M.⁴,Faqeih Eissa A.⁴,Alzaidan Hamad I.¹⁰,Alshenqiti Abduljabbar¹⁰,Flore Leigh Anne¹¹,Hertecant Jozef¹,Sacharow Stephanie¹²,Barbouth Deborah S.¹³,Murayama Kei¹⁴,Shah Amit A.¹⁵,Lin Henry C.¹⁵,Wong Lee-Jun C.³

Affiliation:

1. Division of Clinical Genetics and Metabolic Disorders; Pediatric Department; Tawam Hospital; Al-Ain United Arab Emirates

2. Medical Scientist Training Program and Program in Developmental Biology; Baylor College of Medicine; Houston Texas

3. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

4. Section of Medical Genetics; King Fahad Medical City; Children's Specialist Hospital; Riyadh Saudi Arabia

5. Division of Neuropediatrics and Metabolic Medicine; Department of General Pediatrics; University Hospital Heidelberg; Heidelberg Germany

6. King Abdullah International Medical Research Centre; King Saud bin Abdulaziz University for Health Sciences; Division of Genetics; Department of Pediatrics; King Abdulaziz Medical City; Ministry of National Guard-Health Affairs (NGHA); Riyadh Saudi Arabia

7. Division of Medical Genetics; Department of Human Genetics; Emory University School of Medicine; Atlanta Georgia

8. Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York New York

9. Department of Pediatrics; St John Hospital and Medical Center and Wayne State University School of Medicine; Detroit Michigan

10. Department of Medical Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

11. Division of Genetic; Genomic; and Metabolic Disorders; Children's Hospital of Michigan and Wayne State University; Detroit Michigan

12. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

13. Division of Clinical and Translational Genetics; Dr. John T. Macdonald Foundation Department of Human Genetics; University of Miami, Miller School of Medicine; Miami Florida

14. Department of Metabolism; Chiba Children's Hospital; Chiba Japan

15. Division of Gastroenterology; Hepatology; and Nutrition; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23387/fullpdf

Reference35 articles.

1. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure;Al-Hussaini;Journal of Pediatrics,2014

2. The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics;Al-Jasmi;Molecular Genetics and Metabolism,2011

3. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene;AlSaman;Saudi Journal of Gastroenterology Association,2012

4. Mitochondrial DNA depletion syndrome causing liver failure;Bijarnia-Mahay;Indian Pediatrics,2014

5. Navajo neurohepatopathy: A case report and literature review emphasizing clinicopathologic diagnosis;Bitting;Acta gastro-enterologica Belgica Société royale belge de gastro-entérologie,2016

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