hypercholesterolaemia Lipidology Lomitapide Low-density lipoprotein cholesterol Paediatric Real-world data Patient cases Tawfeg Ben-Omran, Luis Masana, Genovefa Kolovou, Gema Ariceta, F. Javier Nóvoa, Allan M. Lund ... Sanofi. Raul D. Santos is a recipient of a scholarship from the Conselho Nacional de Pesquisa e Desenvolvimento Tecnologico (CNPq) process # 303734/2018-3. Tawfeg Ben-Omran, Gema Ariceta, F. Javier Nóvoa
Tawfeg Ben-Omran 0 1 0 Department of Pediatric, Clinical and Metabolic Genetic, Hamad Medical Corporation , Doha, State of Qatar 1 Department of Pediatric, Clinical Genetics, Weill-Cornell Medical College
WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death. Clinical and molecular characteristics of a consanguineous family...
. Bubshait MDSection of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Doha, QatarMariam Al-Mureikhi MD & Tawfeg Ben-Omran MDGenetics Division, Department of ... • PubMed • Google Scholar Search for Majid Alfadhel MD in:Nature Research journals • PubMed • Google Scholar Search for Tawfeg Ben-Omran MD in:Nature Research journals • PubMed • Google Scholar Search for
Guidelines for acute management of hyperammonemia in the Middle East region Majid Alfadhel,1,2 Fuad Al Mutairi,1,2 Nawal Makhseed,3 Fatma Al Jasmi,4 Khalid Al-Thihli,5 Emtithal Al-Jishi,6 Moeenaldeen AlSayed,7 Zuhair N Al-Hassnan,7,8 Fathiya Al-Murshedi,5 Johannes Häberle,9 Tawfeg Ben-Omran10 Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG) 1Department...
Fowzan S. Alkuraya 6 Brahim Tabarki 7 Caleb Bupp 8 Tawfeg Ben‐Omran 9 Jehan Suleiman 10 Eissa Faqeih 11 Ayman W. El‐Hattab 12 Henry Houlden 13 Hesham Aldhalaan 14 Nadia Alhashmi 15 Wesam Kurdi 16 Ahmad
Background A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral 5th finger...
Johannes Hberle 0 Noora Shahbeck Khalid Ibrahim Bernhard Schmitt Ianina Scheer Ruth O'Gorman Farrukh A Chaudhry Tawfeg Ben-Omran 0 Division of Metabolism and Children's Research Center, University
Johannes Häberle1Email author, Noora Shahbeck2, Khalid Ibrahim3, Bernhard Schmitt4, Ianina Scheer5, Ruth O’Gorman6, Farrukh A Chaudhry†7 and Tawfeg Ben-Omran†2, 8, 9 †Contributed equally Orphanet ... ameliorating the effects of this devastating condition as well as to improve outcomes for this rare genetic disease. Notes Farrukh A Chaudhry and Tawfeg Ben-Omran contributed equally to this work
Balestri Tawfeg Ben-Omran Francesco Brancati Isabel Cordeiro Bruna Santos da Cunha Louisa A Delaney Anne Destre David Fitzpatrick Francesca Forzano Neeti Ghali Greta Gillies Katerina Harwood Yvonne M C