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Fernando Scaglia

Showing results (71-80 of 190) with videos related to

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Journal of Child Neurology|January 11, 2008
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosisNicola Brunetti-Pierri, Meenakshi B Bhattacharjee, Zhiyue J Wang, et al.
Human Genetics|July 16, 2005
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.
Annals of Neurology|March 24, 2005
Creatine metabolism in combined methylmalonic aciduria and homocystinuriaOlaf A Bodamer, Trilochan Sahoo, Arthur L Beaudet, et al.
Molecular Genetics and Metabolism|August 24, 2010
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70Oleg A Shchelochkov, Fang-Yuan Li, Jing Wang, et al.
American Journal of Medical Genetics. Part A|August 18, 2020
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, et al.
Molecular Genetics and Metabolism|January 24, 2021
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementationChaya N Murali, Claudia Soler-Alfonso, Kathleen M Loomes, et al.
Molecular Genetics and Metabolism|February 14, 2012
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementationAyman W El-Hattab, Jean W Hsu, Lisa T Emrick, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementationMark N Ziats, Mathew S Comeaux, Yaping Yang, et al.
American Journal of Medical Genetics. Part A|November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donorsMatthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
Case Reports in Pediatrics|May 1, 2020
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to <i>De Novo</i> Variants in <i>KRT14</i> and <i>KRT5</i>Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, et al.
Pageof 19

Showing results (71-80 of 190) with videos related to

Sort By:
Pageof 19
Journal of Child Neurology|January 11, 2008
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosisNicola Brunetti-Pierri, Meenakshi B Bhattacharjee, Zhiyue J Wang, et al.
Human Genetics|July 16, 2005
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.
Annals of Neurology|March 24, 2005
Creatine metabolism in combined methylmalonic aciduria and homocystinuriaOlaf A Bodamer, Trilochan Sahoo, Arthur L Beaudet, et al.
Molecular Genetics and Metabolism|August 24, 2010
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70Oleg A Shchelochkov, Fang-Yuan Li, Jing Wang, et al.
American Journal of Medical Genetics. Part A|August 18, 2020
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, et al.
Molecular Genetics and Metabolism|January 24, 2021
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementationChaya N Murali, Claudia Soler-Alfonso, Kathleen M Loomes, et al.
Molecular Genetics and Metabolism|February 14, 2012
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementationAyman W El-Hattab, Jean W Hsu, Lisa T Emrick, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementationMark N Ziats, Mathew S Comeaux, Yaping Yang, et al.
American Journal of Medical Genetics. Part A|November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donorsMatthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
Case Reports in Pediatrics|May 1, 2020
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to <i>De Novo</i> Variants in <i>KRT14</i> and <i>KRT5</i>Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, et al.
Pageof 19