Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations-Reference-Cited by-同舟云学术

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations

Published:2016-10-12 Issue:5 Volume:91 Page:690-696
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Shahrour M.A.¹,Staretz-Chacham O.²,Dayan D.³,Stephen J.⁴,Weech A.⁵,Damseh N.¹,Pri Chen H.³⁴⁶,Edvardson S.⁷^ORCID,Mazaheri S.⁴,Saada A.⁸,Hershkovitz E.²,Shaag A.⁹,Huizing M.⁴,Abu-Libdeh B.¹,Gahl W.A⁴⁵,Azem A.³,Anikster Y.¹⁰¹¹,Vilboux T.⁵¹²,Elpeleg O.⁹,Malicdan M.C.⁴⁵^ORCID,

Affiliation:

1. Department of Pediatrics; Al-Makassed Islamic Hospital; Jerusalem Israel

2. Metabolic Disease Unit; Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev; Beer Sheba Israel

3. Department of Biochemistry & Molecular Biology; Tel Aviv University; Tel Aviv Israel

4. Section of Human Biochemical Genetics, Medical Genetics Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda MD USA

5. NIH Undiagnosed Diseases Program; National Human Genome Research Institute, National Institutes of Health; Bethesda MD USA

6. Graduate Partnerships Program; Tel Aviv University, Tel Aviv, Israel, and the National Institutes of Health; Bethesda MD USA

7. Pediatric Neurology Unit; Hadassah, Hebrew University Medical Center Jerusalem; Jerusalem Israel

8. Monique and Jacques Roboh Department of Genetic Research; Hadassah, Hebrew University Medical Center Jerusalem; Jerusalem Israel

9. NIH Intramural Sequencing Center (NISC); National Human Genome Research Institute, National Institutes of Health; Bethesda MD USA

10. Metabolic Disease Unit; Edmond and Lily Safra Children's Hospital, Sheba Medical Center; Tel-Hashomer Israel

11. Sackler Faculty of Medicine; Tel-Aviv University; Tel-Aviv Israel

12. Division of Medical Genomics; Inova Translational Medicine Institute; Fairfax VA USA

Funder

Israel Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12855/fullpdf

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