Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

<h3>Purpose</h3><p dir="ltr">To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessi...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Geethanjali Devadoss Gandhi (14780425) (author)
مؤلفون آخرون: Elbay Aliyev (14056972) (author), Najeeb Syed (12561967) (author), Fazulur Rehaman Vempalli (14778577) (author), Chadi Saad (5369351) (author), Hamdi Mbarek (134997) (author), Omayma Al-Saei (18288931) (author), Aljazi Al-Maraghi (14056975) (author), Mona Abdi (10196665) (author), Navaneethakrishnan Krishnamoorthy (391608) (author), Ramin Badii (491543) (author), Said I. Ismail (11721428) (author), Wadha Al-Muftah (14152551) (author), Radja Badji (14152548) (author), Dima Darwish (14152545) (author), Tasnim Fadl (14152533) (author), Heba Yasin (14152542) (author), Maryem Ennaifar (14778556) (author), Rania Abdellatif (18589450) (author), Fatima Alkuwari (14778562) (author), Muhammad Alvi (4831311) (author), Yasser Al-Sarraj (11721425) (author), Asmaa Althani (499903) (author), Eleni Fethnou (14778568) (author), Fatima Qafoud (14778571) (author), Eiman Alkhayat (14778574) (author), Nahla Afifi (193245) (author), Sara Tomei (3441323) (author), Wei Liu (20030) (author), Stephan Lorenz (466378) (author), Hakeem Almabrazi (6561371) (author), Ramzi Temanni (671528) (author), Tariq Abu Saqri (14778580) (author), Mohammedhusen Khatib (14778583) (author), Mehshad Hamza (14778586) (author), Tariq Abu Zaid (14778589) (author), Ahmed El Khouly (14778592) (author), Tushar Pathare (14778595) (author), Shafeeq Poolat (14778598) (author), Rashid Al-Ali (846229) (author), Omar Albagha (8977856) (author), Souhaila Al-Khodor (247417) (author), Mashael Alshafai (14778607) (author), Lotfi Chouchane (61840) (author), Xavier Estivill (23803) (author), Khalid A. Fakhro (3158862) (author), Younes Mokrab (6367) (author), Jithesh V. Puthen (14778610) (author), Karsten Suhre (67967) (author), Zohreh Tatari (14778613) (author), Ammira A. Akil (19326085) (author), Tawfeg Ben-Omran (6663634) (author)
منشور في: 2024
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Health sciences
Public health
Carrier frequency
Inbreeding coefficient
Inherited metabolic disorders
Middle Eastern population
VUS reclassification
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