檢索結果 - El-Hattab, Ayman W.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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