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Ramona Salvarinova

Showing results (1-10 of 34) with videos related to

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Ophthalmology|May 24, 2020
Vitreous Changes in Gaucher Disease Type 3Veronique Promelle, Ramona Salvarinova, Christopher J Lyons
American Journal of Medical Genetics. Part A|December 4, 2024
Immune Dysregulation in a Child With SOD1-Related Neurological DiseaseRozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, et al.
JIMD Reports|June 29, 2026
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature ReviewShaymaa Shurrab, Amira Mobarak, Gabriella Horvath, et al.
The Journal of Nutrition|January 6, 2017
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with PhenylketonuriaAbrar Turki, Keiko Ueda, Barbara Cheng, et al.
Journal of Child Neurology|January 7, 2017
Case ReportAnita Datta, Alex Ferguson, Chris Simonson, et al.
Molecular Genetics and Metabolism Reports|May 19, 2022
Development of minimally invasive <sup>13</sup>C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type IaAbrar Turki, Sylvia Stockler, Sandra Sirrs, et al.
Molecular Genetics and Metabolism|December 16, 2014
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochlorideSylvia Stockler-Ipsiroglu, Nataliya Yuskiv, Ramona Salvarinova, et al.
Gene|February 17, 2012
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathyKhalid Al-Thihli, Hatim Ebrahim, Derralynn A Hughes, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
Molecular Genetics and Metabolism Reports|May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantationLaura Guilder, Carlos E Prada, Sofia Saenz, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Ophthalmology|May 24, 2020
Vitreous Changes in Gaucher Disease Type 3Veronique Promelle, Ramona Salvarinova, Christopher J Lyons
American Journal of Medical Genetics. Part A|December 4, 2024
Immune Dysregulation in a Child With SOD1-Related Neurological DiseaseRozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, et al.
JIMD Reports|June 29, 2026
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature ReviewShaymaa Shurrab, Amira Mobarak, Gabriella Horvath, et al.
The Journal of Nutrition|January 6, 2017
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with PhenylketonuriaAbrar Turki, Keiko Ueda, Barbara Cheng, et al.
Journal of Child Neurology|January 7, 2017
Case ReportAnita Datta, Alex Ferguson, Chris Simonson, et al.
Molecular Genetics and Metabolism Reports|May 19, 2022
Development of minimally invasive <sup>13</sup>C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type IaAbrar Turki, Sylvia Stockler, Sandra Sirrs, et al.
Molecular Genetics and Metabolism|December 16, 2014
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochlorideSylvia Stockler-Ipsiroglu, Nataliya Yuskiv, Ramona Salvarinova, et al.
Gene|February 17, 2012
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathyKhalid Al-Thihli, Hatim Ebrahim, Derralynn A Hughes, et al.
Molecular Genetics and Metabolism|March 11, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from CanadaRanda Sultan, Anastasia Ambrose, Shalini Bahl, et al.
Molecular Genetics and Metabolism Reports|May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantationLaura Guilder, Carlos E Prada, Sofia Saenz, et al.
Pageof 4