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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498831/
https://www.ncbi.nlm.nih.gov/pubmed/31240163
http://dx.doi.org/10.1002/jmd2.12032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498831/
https://www.ncbi.nlm.nih.gov/pubmed/31240163
http://dx.doi.org/10.1002/jmd2.12032

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