Clinical and biochemical characterization of four patients with mutations in ECHS1-Reference-Cited by-同舟云学术

Clinical and biochemical characterization of four patients with mutations in ECHS1

Published:2015-06-18 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Ferdinandusse Sacha,Friederich Marisa W.,Burlina Alberto,Ruiter Jos P. N.,Coughlin Curtis R.,Dishop Megan K.,Gallagher Renata C.,Bedoyan Jirair K.,Vaz Frédéric M.,Waterham Hans R.,Gowan Katherine,Chatfield Kathryn,Bloom Kaitlyn,Bennett Michael J.,Elpeleg Orly,Van Hove Johan L. K.,Wanders Ronald J. A.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0290-1.pdf

Reference27 articles.

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