HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders-Reference-Cited by-同舟云学术

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

Published:2014-09-23 Issue:12 Volume:164 Page:3162-3169
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Reuter Miriam S.¹,Sass Jörn Oliver²,Leis Thomas³,Köhler Julia⁴,Mayr Johannes A.⁵,Feichtinger René G.⁵,Rauh Manfred³,Schanze Ina⁶,Bähr Luzy²,Trollmann Regina³,Uebe Steffen¹,Ekici Arif B.¹,Reis André¹

Affiliation:

1. Institute of Human Genetics; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

2. Clinical Chemistry and Biochemistry; Universitäts-Kinderspital Zürich; Zürich Switzerland

3. Department of Pediatrics; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

4. Department of Radiology; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

5. Department of Pediatrics; Paracelsus Medical University; Salzburg Austria

6. Institute of Human Genetics; Otto-von-Guericke-Universität Magdeburg; Magdeburg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

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2. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Ferdinandusse;Orphanet J Rare Dis,2013

3. The sequence alignment/map format and SAMtools;Li;Bioinformatics,2009

4. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration;Loupatty;Am J Hum Genet,2007

5. Mitochondrial phosphate-carrier deficiency: A novel disorder of oxidative phosphorylation;Mayr;Am J Hum Genet,2007

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