Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

Mitochondrial disorders (MIDs) shows overlapping clinical presentations owing to the genetic and metabolic defects of mitochondria. However, specific relationship between inherited mutations in nuclear encoded mitochondrial proteins and their functional impacts in terms of metabolic defects in patie...

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Detalles Bibliográficos
Autores principales: Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933272/
https://www.ncbi.nlm.nih.gov/pubmed/31889854
http://dx.doi.org/10.1016/j.sjbs.2019.10.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933272/
https://www.ncbi.nlm.nih.gov/pubmed/31889854
http://dx.doi.org/10.1016/j.sjbs.2019.10.001

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