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Saskia B Wortmann

Showing results (41-50 of 178) with videos related to

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Journal of Inherited Metabolic Disease|September 3, 2014
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsSaskia B Wortmann, Marc Espeel, Ligia Almeida, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Immunology Letters|November 18, 2024
Vaccine safety in children with genetically confirmed mitochondrial diseaseAnnemarie de Vreugd, Franz A Zimmermann, Katja Steinbrücker, et al.
Orphanet Journal of Rare Diseases|August 26, 2020
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type IbSarah C Grünert, Roland Elling, Bärbel Maag, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 2020
Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID-19Matthias Schaffert, Franz Zimmermann, Leopold Bauer, et al.
Journal of Inherited Metabolic Disease|February 10, 2019
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotypeNicholas V Stence, Laura Z Fenton, Claire Levek, et al.
Neuromuscular Disorders : NMD|December 16, 2014
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmyBeverly Jo McCann, Helen A L Tuppen, Benno Küsters, et al.
Neuropediatrics|May 8, 2026
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94Robin Wijngaard, Pinelopi Dragoumi, Kornelia Neveling, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Orphanet Journal of Rare Diseases|August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in AustriaMarion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Pageof 18

Showing results (41-50 of 178) with videos related to

Sort By:
Pageof 18
Journal of Inherited Metabolic Disease|September 3, 2014
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsSaskia B Wortmann, Marc Espeel, Ligia Almeida, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Immunology Letters|November 18, 2024
Vaccine safety in children with genetically confirmed mitochondrial diseaseAnnemarie de Vreugd, Franz A Zimmermann, Katja Steinbrücker, et al.
Orphanet Journal of Rare Diseases|August 26, 2020
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type IbSarah C Grünert, Roland Elling, Bärbel Maag, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 1, 2020
Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID-19Matthias Schaffert, Franz Zimmermann, Leopold Bauer, et al.
Journal of Inherited Metabolic Disease|February 10, 2019
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotypeNicholas V Stence, Laura Z Fenton, Claire Levek, et al.
Neuromuscular Disorders : NMD|December 16, 2014
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmyBeverly Jo McCann, Helen A L Tuppen, Benno Küsters, et al.
Neuropediatrics|May 8, 2026
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94Robin Wijngaard, Pinelopi Dragoumi, Kornelia Neveling, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Orphanet Journal of Rare Diseases|August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in AustriaMarion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Pageof 18