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Fernando Scaglia

Showing results (21-30 of 190) with videos related to

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American Journal of Medical Genetics. Part A|April 23, 2018
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiencyRobert C Stowe, Qin Sun, Sarah H Elsea, et al.
Data in Brief|June 23, 2021
Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of UruguayHenri Masquelin, Tahar Aïfa, Fernando Scaglia, et al.
Molecular Genetics and Metabolism|September 26, 2017
Therapies for mitochondrial diseases and current clinical trialsAyman W El-Hattab, Ana Maria Zarante, Mohammed Almannai, et al.
Molecular Genetics and Metabolism|June 23, 2015
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment optionsAyman W El-Hattab, Adekunle M Adesina, Jeremy Jones, et al.
American Journal of Human Genetics|April 9, 2011
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolismAyelet Erez, Oleg A Shchelochkov, Sharon E Plon, et al.
Molecular Genetics and Metabolism|April 3, 2010
Current molecular diagnostic algorithm for mitochondrial disordersLee-Jun C Wong, Fernando Scaglia, Brett H Graham, et al.
AJNR. American Journal of Neuroradiology|August 11, 2005
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defectsFernando Scaglia, Lee-Jun C Wong, Georgirene D Vladutiu, et al.
American Journal of Medical Genetics. Part A|June 21, 2016
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromesTeda Arunrut, Marta Sabbadini, Mahim Jain, et al.
Molecular Genetics and Metabolism|July 24, 2012
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disordersAyman W El-Hattab, Lisa T Emrick, William J Craigen, et al.
Molecular Genetics and Metabolism|August 1, 2022
Mitochondrial DNA maintenance defects: potential therapeutic strategiesMohammed Almannai, Ayman W El-Hattab, Mahshid S Azamian, et al.
Pageof 19

Showing results (21-30 of 190) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|April 23, 2018
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiencyRobert C Stowe, Qin Sun, Sarah H Elsea, et al.
Data in Brief|June 23, 2021
Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of UruguayHenri Masquelin, Tahar Aïfa, Fernando Scaglia, et al.
Molecular Genetics and Metabolism|September 26, 2017
Therapies for mitochondrial diseases and current clinical trialsAyman W El-Hattab, Ana Maria Zarante, Mohammed Almannai, et al.
Molecular Genetics and Metabolism|June 23, 2015
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment optionsAyman W El-Hattab, Adekunle M Adesina, Jeremy Jones, et al.
American Journal of Human Genetics|April 9, 2011
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolismAyelet Erez, Oleg A Shchelochkov, Sharon E Plon, et al.
Molecular Genetics and Metabolism|April 3, 2010
Current molecular diagnostic algorithm for mitochondrial disordersLee-Jun C Wong, Fernando Scaglia, Brett H Graham, et al.
AJNR. American Journal of Neuroradiology|August 11, 2005
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defectsFernando Scaglia, Lee-Jun C Wong, Georgirene D Vladutiu, et al.
American Journal of Medical Genetics. Part A|June 21, 2016
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromesTeda Arunrut, Marta Sabbadini, Mahim Jain, et al.
Molecular Genetics and Metabolism|July 24, 2012
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disordersAyman W El-Hattab, Lisa T Emrick, William J Craigen, et al.
Molecular Genetics and Metabolism|August 1, 2022
Mitochondrial DNA maintenance defects: potential therapeutic strategiesMohammed Almannai, Ayman W El-Hattab, Mahshid S Azamian, et al.
Pageof 19