Hakutulokset - El-Hattab, Ayman

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options Tekijä El-Hattab, Ayman W., Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mitochondrial Cardiomyopathies Tekijä El-Hattab, Ayman W., Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline Tekijä Almannai, Mohammed, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Chromosome 15q24 microdeletion syndrome Tekijä Magoulas, Pilar L, El-Hattab, Ayman W

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management Tekijä Magoulas, Pilar L, El-Hattab, Ayman W

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans Tekijä Al Harbi, Mariam S., El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer Tekijä Ballout, Rami A., El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra Tekijä Al Kaabi, Eiman H., El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Arginine and citrulline for the treatment of MELAS syndrome Tekijä El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

Hae kokoteksti Hae kokoteksti

Carnitine Inborn Errors of Metabolism Tekijä Almannai, Mohammed, Alfadhel, Majid, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes Tekijä Almannai, Mohammed, Salah, Azza, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Arginine and Citrulline for the Treatment of MELAS Syndrome Tekijä El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

Hae kokoteksti

Extra-muscular manifestations of TK2 deficiency Tekijä El-Hattab, Ayman W., Wang, Julia, Wong, Lee-Jun

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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 Tekijä Al Dhaibani, Muna A., Allingham-Hawkins, Diane, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Therapies for mitochondrial diseases and current clinical trials Tekijä El-Hattab, Ayman W., Zarante, Ana Maria, Almannai, Mohammed, Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Metabolic Seizures Tekijä Almannai, Mohammed, Al Mahmoud, Rabah A., Mekki, Mohammed, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Clinical trials in mitochondrial disorders, an update Tekijä Almannai, Mohammed, El-Hattab, Ayman W., Ali, May, Soler-Alfonso, Claudia, Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome() Tekijä El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Hae kokoteksti Hae kokoteksti Hae kokoteksti

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas... Tekijä Wessel, Karen, Suleiman, Jehan, Khalaf, Tamam E., Kishore, Shivendra, Rolfs, Arndt, El-Hattab, Ayman W.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review Tekijä Ballout, Rami A., Al Alam, Chadi, Bonnen, Penelope E., Huemer, Martina, El-Hattab, Ayman W., Shbarou, Rolla

Hae kokoteksti Hae kokoteksti Hae kokoteksti