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Saskia Wortmann

Showing results (11-20 of 22) with videos related to

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Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.
Clinical Genetics|September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohortAmelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
Journal of Inherited Metabolic Disease|October 1, 2021
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021Gabriele Ramoser, Federica Caferri, Bernhard Radlinger, et al.
Brain : a Journal of Neurology|January 17, 2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumRauan Kaiyrzhanov, Saskia Wortmann, Taryn Reid, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.
Clinical Genetics|September 7, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohortAmelie T van der Ven, Jessika Johannsen, Fanny Kortüm, et al.
Journal of Inherited Metabolic Disease|October 1, 2021
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021Gabriele Ramoser, Federica Caferri, Bernhard Radlinger, et al.
Brain : a Journal of Neurology|January 17, 2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumRauan Kaiyrzhanov, Saskia Wortmann, Taryn Reid, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 3