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Stephanie Grunewald

Showing results (41-50 of 59) with videos related to

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Transplantation|February 26, 2019
Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome PatientsFrançoise Smets, Dries Dobbelaere, Patrick McKiernan, et al.
Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Journal of Inherited Metabolic Disease|February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approachesBryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Transplantation|February 26, 2019
Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome PatientsFrançoise Smets, Dries Dobbelaere, Patrick McKiernan, et al.
Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
Journal of Inherited Metabolic Disease|February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approachesBryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Pageof 6