Identification of a novel PEX14 mutation in Zellweger syndrome

Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, and hepatomegaly. Abnormal findings of metabolic screening tests included hyperbilirubinaemia, hypoketotic dicarboxylic aciduria, increased C(26:0) and decreased C(22:0) p...

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Detalhes bibliográficos
Main Authors: Huybrechts, Sofie J, Van Veldhoven, Paul P, Hoffman, Ilse, Zeevaert, Renate, de Vos, Rita, Demaerel, Philippe, Brams, Marijke, Jaeken, Jaak, Fransen, Marc, Cassiman, David
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027610/
https://ncbi.nlm.nih.gov/pubmed/21686775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.07.2008.0503
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