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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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| Hauptverfasser: | , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2009
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| Schlagworte: | |
| Online Zugang: | 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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