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Fernando Scaglia

Showing results (61-70 of 190) with videos related to

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The Journal of Nutrition|October 7, 2004
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolismFernando Scaglia, Nicola Brunetti-Pierri, Soledad Kleppe, et al.
American Journal of Medical Genetics. Part A|February 3, 2025
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter DeficiencyAmeya S Walimbe, Emily Waskow, Laura Mackay, et al.
Mitochondrion|August 3, 2014
Glucose metabolism derangements in adults with the MELAS m.3243A>G mutationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
The American Journal of Clinical Nutrition|April 15, 2011
Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patientsJuan C Marini, Brendan C Lanpher, Fernando Scaglia, et al.
Gene|March 13, 2012
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduriaMir Reza Bekheirnia, Wei Zhang, Tanya Eble, et al.
Hypertension (Dallas, Tex. : 1979)|July 6, 2021
Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of GestationXiqi Li, Aleksandar Milosavljevic, Sarah H Elsea, et al.
Molecular Genetics and Metabolism|June 4, 2011
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutationsChristian P Schaaf, Maria Blazo, Richard Alan Lewis, et al.
American Journal of Medical Genetics. Part A|March 12, 2024
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial diseaseAmanda Gerard, Elizabeth Mizerik, Carrie A Mohila, et al.
Brain : a Journal of Neurology|March 13, 2018
The expanding neurological phenotype of DNM1L-related disordersMichael F Wangler, Nurit Assia Batzir, Laurie A Robak, et al.
Molecular Genetics and Metabolism|September 2, 2025
TPI deficiency: A case report and review of the literatureAaron Williams, Monika Weisz-Hubshman, Vittoria Rossi, et al.
Pageof 19

Showing results (61-70 of 190) with videos related to

Sort By:
Pageof 19
The Journal of Nutrition|October 7, 2004
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolismFernando Scaglia, Nicola Brunetti-Pierri, Soledad Kleppe, et al.
American Journal of Medical Genetics. Part A|February 3, 2025
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter DeficiencyAmeya S Walimbe, Emily Waskow, Laura Mackay, et al.
Mitochondrion|August 3, 2014
Glucose metabolism derangements in adults with the MELAS m.3243A>G mutationAyman W El-Hattab, Lisa T Emrick, Jean W Hsu, et al.
The American Journal of Clinical Nutrition|April 15, 2011
Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patientsJuan C Marini, Brendan C Lanpher, Fernando Scaglia, et al.
Gene|March 13, 2012
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduriaMir Reza Bekheirnia, Wei Zhang, Tanya Eble, et al.
Hypertension (Dallas, Tex. : 1979)|July 6, 2021
Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of GestationXiqi Li, Aleksandar Milosavljevic, Sarah H Elsea, et al.
Molecular Genetics and Metabolism|June 4, 2011
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutationsChristian P Schaaf, Maria Blazo, Richard Alan Lewis, et al.
American Journal of Medical Genetics. Part A|March 12, 2024
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial diseaseAmanda Gerard, Elizabeth Mizerik, Carrie A Mohila, et al.
Brain : a Journal of Neurology|March 13, 2018
The expanding neurological phenotype of DNM1L-related disordersMichael F Wangler, Nurit Assia Batzir, Laurie A Robak, et al.
Molecular Genetics and Metabolism|September 2, 2025
TPI deficiency: A case report and review of the literatureAaron Williams, Monika Weisz-Hubshman, Vittoria Rossi, et al.
Pageof 19