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Saskia B Wortmann

Showing results (71-80 of 178) with videos related to

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Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
International Journal of Neonatal Screening|July 2, 2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three FamiliesJohannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
International Journal of Neonatal Screening|January 25, 2022
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. <i>Int. J. Neonatal Screen</i>. 2021, <i>7</i>, 32Johannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
Journal of Inherited Metabolic Disease|January 8, 2024
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessmentTerry G J Derks, Annieke Venema, Clara Köller, et al.
Molecular Genetics and Metabolism|November 27, 2024
Ketogenic diet in adult patients with mitochondrial myopathyHeidi E E Zweers, Sophie H Kroesen, Gijsje Beerlink, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
Pageof 18

Showing results (71-80 of 178) with videos related to

Sort By:
Pageof 18
Neuropediatrics|January 5, 2023
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral PhenylalanineSusanne L Oswald, Katja Steinbrücker, Melanie T Achleitner, et al.
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Metabolites|November 24, 2023
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal ScreeningMelanie T Achleitner, Judith J M Jans, Laura Ebner, et al.
International Journal of Neonatal Screening|July 2, 2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three FamiliesJohannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
International Journal of Neonatal Screening|January 25, 2022
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. <i>Int. J. Neonatal Screen</i>. 2021, <i>7</i>, 32Johannes Spenger, Esther M Maier, Katharina Wechselberger, et al.
Journal of Inherited Metabolic Disease|January 8, 2024
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessmentTerry G J Derks, Annieke Venema, Clara Köller, et al.
Molecular Genetics and Metabolism|November 27, 2024
Ketogenic diet in adult patients with mitochondrial myopathyHeidi E E Zweers, Sophie H Kroesen, Gijsje Beerlink, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
Pageof 18