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Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency od Fernando Scaglia, Brendan Lee

Izdano 2006

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

Izdano 2013

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3

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease od Fernando Scaglia, Lee‐Jun C. Wong

Izdano 2007

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

Izdano 2016

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

Izdano 2017

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

Izdano 2017

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

Izdano 2017

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Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism od Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, Brendan Lee

Izdano 2011

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9

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

Izdano 2020

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10

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

Izdano 2012

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11

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

Izdano 2010

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Mitochondrial Lipid Abnormality and Electron Transport Chain Impairment in Mice Lacking α-Synuclein od Christopher E. Ellis, Eric J. Murphy, Drake C. Mitchell, Mikhail Y. Golovko, Fernando Scaglia, Gwendolyn Barceló‐Coblijn, Robert L. Nussbaum

Izdano 2005

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13

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

Izdano 2016

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14

Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions od Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

Izdano 2008

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15

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism od Fernando Scaglia, Nicola Brunetti‐Pierri, Soledad Kleppe, Juan C. Marini, Susan Carter, Peter J. Garlick, Farook Jahoor, William E. O’Brien, Brendan Lee

Izdano 2004

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16

Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i> od Yu-Hsin Chao, Laurie Robak, Fan Xia, Mary Kay Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler

Izdano 2016

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17

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature od Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa E. Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Izdano 2011

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18

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia od Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

Izdano 2009

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19

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG od Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava

Izdano 2020

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20

Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy od Kala Y. Kamdar, Kevin R. Krull, Randa El‐Zein, Pim Brouwers, B.S. Potter, Lynnette Harris, Suzanne Holm, ZoAnn E. Dreyer, Fernando Scaglia, Carol J. Etzel, Melissa L. Bondy, M. Fatih Okcu

Izdano 2011

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Rezultati - Fernando Scaglia

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency od Fernando Scaglia, Brendan Lee

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

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease od Fernando Scaglia, Lee‐Jun C. Wong

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

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

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

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

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism od Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, Brendan Lee

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

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

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

Mitochondrial Lipid Abnormality and Electron Transport Chain Impairment in Mice Lacking α-Synuclein od Christopher E. Ellis, Eric J. Murphy, Drake C. Mitchell, Mikhail Y. Golovko, Fernando Scaglia, Gwendolyn Barceló‐Coblijn, Robert L. Nussbaum

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

Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions od Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism od Fernando Scaglia, Nicola Brunetti‐Pierri, Soledad Kleppe, Juan C. Marini, Susan Carter, Peter J. Garlick, Farook Jahoor, William E. O’Brien, Brendan Lee

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature od Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa E. Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia od Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

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