Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline

by Mohammed Almannai, Mohammed Almannai, Ayman W. El-Hattab, Ayman W. El-Hattab
Published 2021-08-01

Mitochondrial cardiomyopathies

by Ayman W. El-Hattab, Fernando Scaglia
Published 2016-07-01

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

by Mariam S. Al Harbi, Ayman W. El-Hattab
Published 2017-01-01

The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer

by Rami A. Ballout, Ayman W. El-Hattab
Published 2021-06-01

Carnitine Inborn Errors of Metabolism

by Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab
Published 2019-09-01

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

by Eiman H. Al Kaabi, Ayman W. El-Hattab
Published 2016-09-01

Metabolic Seizures

by Mohammed Almannai, Rabah A. Al Mahmoud, Rabah A. Al Mahmoud, Mohammed Mekki, Mohammed Mekki, Ayman W. El-Hattab, Ayman W. El-Hattab
Published 2021-07-01

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

by Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab
Published 2017-10-01

Arginine and Citrulline for the Treatment of MELAS Syndrome

by Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG
Published 2017-03-01

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas...

by Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab
Published 2017-10-01

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

by Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
Published 2020-07-01

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

by Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab
Published 2020-02-01

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

by Rami A. Ballout, Chadi Al Alam, Penelope E. Bonnen, Martina Huemer, Martina Huemer, Ayman W. El-Hattab, Rolla Shbarou
Published 2019-02-01

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

by Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Published 2010-12-01

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

by Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
Published 2017-01-01

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

by Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski
Published 2020-05-01