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Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
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.
Afiliação
  • Gaboon NEA; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Banaganapalli B; Medical Genetics Centre, Faculty of Medicine, Ain-Shams University, Cairo, Egypt.
  • Nasser K; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Razeeth M; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Alsaedi MS; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Rashidi OM; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abdelwehab LS; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Alahmadi TS; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Safdar OY; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Shaik J; Faculty of Medicine, Ain Shams University, Cairo, Egypt.
  • Choudhry HMZ; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Al-Numan HH; Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Khan MI; Genome Research Chair, College of Science, King Saud University, Saudi Arabia.
  • Al-Aama JY; Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Elango R; Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Shaik NA; Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Saudi J Biol Sci ; 27(1): 324-334, 2020 Jan.
Article em En | MEDLINE | ID: mdl-31889854
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article