检索结果 - Ayman W. El‐Hattab

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  1. 1
    Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

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

    出版 2013
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  2. 2
    Chromosome 15q24 microdeletion syndrome

    Chromosome 15q24 microdeletion syndrome 由 Pilar Magoulas, Ayman W. El‐Hattab

    出版 2012
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  3. 3
    Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

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

    出版 2012
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  4. 4
    Mitochondrial Cardiomyopathies

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

    出版 2016
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  5. 5
    Arginine and Citrulline for the Treatment of MELAS Syndrome

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

    出版 2017
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  6. 6
    Carnitine Inborn Errors of Metabolism

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

    出版 2019
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  7. 7
    Mitochondrial DNA maintenance defects

    Mitochondrial DNA maintenance defects 由 Ayman W. El‐Hattab, William J. Craigen, Fernando Scaglia

    出版 2017
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  8. 8
    Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders

    Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders 由 Mode Al Ojaimi, Azza Salah, Ayman W. El‐Hattab

    出版 2022
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  9. 9
    Therapies for mitochondrial diseases and current clinical trials

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

    出版 2017
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  10. 10
    Clinical trials in mitochondrial disorders, an update

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

    出版 2020
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  11. 11
    Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

    Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation 由 Ayman W. El‐Hattab, Jean W. Hsu, Lisa Emrick, Lee‐Jun C. Wong, William J. Craigen, Farook Jahoor, Fernando Scaglia

    出版 2012
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  12. 12
    Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

    Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency 由 Fangyuan Li, Ayman W. El‐Hattab, Erawati V. Bawle, Richard G. Boles, Eric Schmitt, Fernando Scaglia, Lee‐Jun C. Wong

    出版 2010
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  13. 13
    OEIS complex associated with chromosome 1p36 deletion: A case report and review

    OEIS complex associated with chromosome 1p36 deletion: A case report and review 由 Ayman W. El‐Hattab, Josh Skorupski, Michael H. Hsieh, Amy M. Breman, Ankita Patel, Sau Wai Cheung, William J. Craigen

    出版 2010
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  14. 14
    Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

    Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation 由 Ayman W. El‐Hattab, Lisa Emrick, Jean W. Hsu, Sirisak Chanprasert, Mohammed Almannai, William J. Craigen, Farook Jahoor, Fernando Scaglia

    出版 2016
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  15. 15
    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review 由 Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis, Joseph A. Church, Ankita Patel, Sau Wai Cheung

    出版 2015
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  16. 16
    SURF1-associated leigh syndrome: A case series and novel mutations

    SURF1-associated leigh syndrome: A case series and novel mutations 由 Inn‐Chi Lee, Ayman W. El‐Hattab, Jing Wang, Fangyuan Li, Shao‐Wen Weng, William J. Craigen, Lee‐Jun C. Wong

    出版 2012
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  17. 17
    Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

    Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges 由 Takeya Adachi, Ayman W. El‐Hattab, Ritu Jain, Katya A. Nogales Crespo, Camila I. Quirland Lazo, Maurizio Scarpa, Marshall Summar, Duangrurdee Wattanasirichaigoon

    出版 2023
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  18. 18
    Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

    Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes 由 Bekim Sadiković, Jing Wang, Ayman W. El‐Hattab, Megan Landsverk, Ganka Douglas, Ellen K. Brundage, William J. Craigen, Eric Schmitt, Lee‐Jun C. Wong

    出版 2010
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  19. 19
    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions 由 Ayman W. El‐Hattab, Ping Fang, Weihong Jin, J. R. Hughes, James B. Gibson, Gargi Patel, Dorothy K. Grange, Linda Manwaring, Ankita Patel, P. Stankiewicz, Sau Wai Cheung

    出版 2011
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  20. 20
    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping 由 Ayman W. El‐Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna Immken, Gayle Patel, Mary‐Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung‐Hae Kang, Ankita Patel, Fernando Scaglia, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    出版 2009
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