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Neuropediatrics
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January 22, 2026
Harmless Food Supplement or Medicine with Side Effects-Promising Treatment Options for Neurometabolic Disorders: Explore Well and Proceed with Caution
Saskia B Wortmann, Ingo Borggraefe
Journal of Inherited Metabolic Disease
|
January 26, 2019
Choline-related-inherited metabolic diseases-A mini review
Saskia B Wortmann, Johannes A Mayr
Journal of Inherited Metabolic Disease
|
January 27, 2018
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Laura S Kremer, Saskia B Wortmann, Holger Prokisch
Journal of Personalized Medicine
|
May 25, 2024
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
Oliver Heath, Emma Hammerl, Anna Spitzinger, et al.
JIMD Reports
|
May 13, 2020
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome)
Adela Della Marina, Baerbel Leiendecker, Sebastian Roesch, et al.
Movement Disorders Clinical Practice
|
January 24, 2020
Mutation of the <i>WARS2</i> Gene as the Cause of a Severe Hyperkinetic Movement Disorder
Annemarie Hübers, Hans-Jürgen Huppertz, Saskia B Wortmann, et al.
Neurology
|
August 11, 2021
Teaching NeuroImage: Bilateral Nucleus Tractus Solitarius Lesions in Neurogenic Respiratory Failure
Bindu Parayil Sankaran, Saskia B Wortmann, Michel A Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2024
Response to Kulseth
Georg F Vogel, René G Feichtinger, Johannes A Mayr, et al.
Neuropediatrics
|
May 16, 2017
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sílvia Sequeira, Márcia Rodrigues, Sandra Jacinto, et al.
Neuropediatrics
|
October 12, 2022
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual
Katja Steinbrücker, Elke Tiefenthaler, Eva-Maria Schernthaner, et al.
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Search research articles
Search
Showing results (1-10 of 177) with videos related to
Sort By:
Page
of 18
Neuropediatrics
|
January 22, 2026
Harmless Food Supplement or Medicine with Side Effects-Promising Treatment Options for Neurometabolic Disorders: Explore Well and Proceed with Caution
Saskia B Wortmann, Ingo Borggraefe
Journal of Inherited Metabolic Disease
|
January 26, 2019
Choline-related-inherited metabolic diseases-A mini review
Saskia B Wortmann, Johannes A Mayr
Journal of Inherited Metabolic Disease
|
January 27, 2018
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Laura S Kremer, Saskia B Wortmann, Holger Prokisch
Journal of Personalized Medicine
|
May 25, 2024
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
Oliver Heath, Emma Hammerl, Anna Spitzinger, et al.
JIMD Reports
|
May 13, 2020
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome)
Adela Della Marina, Baerbel Leiendecker, Sebastian Roesch, et al.
Movement Disorders Clinical Practice
|
January 24, 2020
Mutation of the <i>WARS2</i> Gene as the Cause of a Severe Hyperkinetic Movement Disorder
Annemarie Hübers, Hans-Jürgen Huppertz, Saskia B Wortmann, et al.
Neurology
|
August 11, 2021
Teaching NeuroImage: Bilateral Nucleus Tractus Solitarius Lesions in Neurogenic Respiratory Failure
Bindu Parayil Sankaran, Saskia B Wortmann, Michel A Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2024
Response to Kulseth
Georg F Vogel, René G Feichtinger, Johannes A Mayr, et al.
Neuropediatrics
|
May 16, 2017
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sílvia Sequeira, Márcia Rodrigues, Sandra Jacinto, et al.
Neuropediatrics
|
October 12, 2022
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual
Katja Steinbrücker, Elke Tiefenthaler, Eva-Maria Schernthaner, et al.
Page
of 18