Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects-Reference-Cited by-同舟云学术

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

Published:2020-01 Issue:1 Volume:27 Page:324-334
ISSN:1319-562X
Container-title:Saudi Journal of Biological Sciences
language:en
Short-container-title:Saudi Journal of Biological Sciences

Author:

Gaboon Nagwa E.A.,Banaganapalli Babajan^ORCID,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^ORCID,Shaik Noor A.

Publisher

Elsevier BV

Subject

General Agricultural and Biological Sciences

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5. Periventricular calcification, abnormal pterins and dry thickened skin: expanding the clinical spectrum of RMND1?;Casey;JIMD Rep.,2016

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