Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Zainab Almasseri"'
Autor:
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
Abstract SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy,
Externí odkaz:
https://doaj.org/article/48917f01742c4d66a01fabd9bebcdbd0
Autor:
Zainab Almasseri, Manal Nicolas Jilwan, Mohammad Al-Owain, Ahmad Khaled Almadani, Rousseau Gama, Raashda A Sulaiman
Publikováno v:
Journal of Rare Diseases Research & Treatment. 5:1-5
© 2020 The Authors. Published by Journal of Rare Diseases Research & Treatment. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: http
Autor:
Abdullah S. Al-Kharashi, Ahmed M. Abu El-Asrar, Emad B. Abboud, Bandar Alamro, Fowzan S. Alkuraya, Ramadan Alturki, Rana Helaby, Niema Ibrahim, Bandar Al Ghamdi, Hisham Alkuraya, Nisha Patel, Mohammed D. Alotaibi, Sawsan R. Nowilaty, Abdulrahman Al-Hussaini, Sulaiman M. Alsulaiman, Amani Elshaer, Zainab Almasseri, Hamad Al-Zaidan, Naif A.M. Almontashiri, Wafaa Eyaid
Publikováno v:
Clinical Genetics. 97:447-456
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and
Autor:
Moeenaldeen AlSayed, Zainab Almasseri
Publikováno v:
Molecular Genetics and Metabolism. 135:258-259
Autor:
Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reports
JIMD Reports
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which
Autor:
Moeenaldeen AlSayed, Zainab Almasseri
Publikováno v:
Molecular Genetics and Metabolism. 135:258
Autor:
Hisham Alkuraya, Nisha Patel, Niema Ibrahim, Bandar Al Ghamdi, Sulaiman M. Alsulaiman, Sawsan R. Nowilaty, Emad Abboud, Ramadan Alturki, Abdullah Alkharashi, Wafaa Eyaid, Zainab Almasseri, Hamad Alzaidan, Mohammed D. Alotaibi, Ahmed M. Abu El‐Asrar, Bandar Alamro, Rana Helaby, Amani Elshaer, Naif A.M. Almontashiri, Abdulrahman A. Al‐Hussaini, Fowzan S. Alkuraya
Publikováno v:
Clinical Genetics. 97