MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options AW El-Hattab, AM Adesina, J Jones, F Scaglia Molecular genetics and metabolism 116 (1-2), 4-12, 2015 | 714 | 2015 |
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options AW El-Hattab, F Scaglia Neurotherapeutics 10 (2), 186-198, 2013 | 387 | 2013 |
Mitochondrial DNA maintenance defects AW El-Hattab, WJ Craigen, F Scaglia Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (6 …, 2017 | 309 | 2017 |
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management PL Magoulas, AW El-Hattab Orphanet journal of rare diseases 7, 1-6, 2012 | 307 | 2012 |
Mitochondrial cardiomyopathies AW El-Hattab, F Scaglia Frontiers in Cardiovascular Medicine 3, 25, 2016 | 220 | 2016 |
Therapies for mitochondrial diseases and current clinical trials AW El-Hattab, AM Zarante, M Almannai, F Scaglia Molecular genetics and metabolism 122 (3), 1-9, 2017 | 211 | 2017 |
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation AW El-Hattab, JW Hsu, LT Emrick, LJC Wong, WJ Craigen, F Jahoor, ... Molecular genetics and metabolism 105 (4), 607-614, 2012 | 178 | 2012 |
Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 168 | 2017 |
Disorders of carnitine biosynthesis and transport AW El-Hattab, F Scaglia Molecular genetics and metabolism 116 (3), 107-112, 2015 | 147 | 2015 |
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases AW El-Hattab, J Suleiman, M Almannai, F Scaglia Molecular Genetics and Metabolism 125 (4), 315-321, 2018 | 143 | 2018 |
Inborn errors of metabolism AW El-Hattab Clinics in perinatology 42 (2), 413-439, 2015 | 142 | 2015 |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects AW El-Hattab, FY Li, J Shen, BR Powell, EV Bawle, DJ Adams, E Wahl, ... Genetics in Medicine 12 (1), 19-24, 2010 | 123 | 2010 |
Serine biosynthesis and transport defects AW El-Hattab Molecular genetics and metabolism 118 (3), 153-159, 2016 | 120 | 2016 |
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ... BMC medical genomics 9, 1-14, 2016 | 116 | 2016 |
Carnitine inborn errors of metabolism M Almannai, M Alfadhel, AW El-Hattab Molecules 24 (18), 3251, 2019 | 114 | 2019 |
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 113 | 2016 |
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations AW El-Hattab, FY Li, E Schmitt, S Zhang, WJ Craigen, LJC Wong Molecular genetics and metabolism 99 (3), 300-308, 2010 | 113 | 2010 |
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders AW El-Hattab, LT Emrick, WJ Craigen, F Scaglia Molecular genetics and metabolism 107 (3), 247-252, 2012 | 107 | 2012 |
Mitochondrial cytopathies AW El-Hattab, F Scaglia Cell Calcium 60 (3), 199-206, 2016 | 102 | 2016 |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency FY Li, AW El‐Hattab, EV Bawle, RG Boles, ES Schmitt, F Scaglia, ... Human mutation 31 (8), E1632-E1651, 2010 | 99 | 2010 |