A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency

BACKGROUND: Primary coenzyme Q(10) (CoQ(10)) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ(10) biosynthesis pathway. COQ7‐associated CoQ(10) deficiency is very rare and only two cases have been reported. METHODS AND...

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Bibliografische gegevens
Gepubliceerd in:JIMD Rep
Hoofdauteurs: Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2019
Onderwerpen:
Case Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498831/
https://ncbi.nlm.nih.gov/pubmed/31240163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12032
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