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Genetic Counseling (Geneva, Switzerland)
|
May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited
S B Wortmann, R Rodenburg, B Schwahn, et al.
Neuropediatrics
|
June 10, 2017
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, et al.
Genes
|
June 28, 2023
Case Report-An Inherited Loss-of-Function <i>NRXN3</i> Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions
René G Feichtinger, Martin Preisel, Karin Brugger, et al.
Brain : a Journal of Neurology
|
December 21, 2016
Treatable mitochondrial diseases: cofactor metabolism and beyond
Felix Distelmaier, Tobias B Haack, Saskia B Wortmann, et al.
Diagnostics (Basel, Switzerland)
|
May 27, 2023
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
Maria Veiga-da-Cunha, Saskia B Wortmann, Sarah C Grünert, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini
M Binkhorst, S B Wortmann, S Funke, et al.
JIMD Reports
|
April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Saskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Orphanet Journal of Rare Diseases
|
July 4, 2021
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M J van Wegberg, Mirian C H Janssen, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2021
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M J van Wegberg, Mirian C H Janssen, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2010
The 3-methylglutaconic acidurias: what's new?
Saskia B Wortmann, Leo A Kluijtmans, Udo F H Engelke, et al.
Page
of 21
Search research articles
Search
Showing results (21-30 of 205) with videos related to
Sort By:
Page
of 21
Genetic Counseling (Geneva, Switzerland)
|
May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited
S B Wortmann, R Rodenburg, B Schwahn, et al.
Neuropediatrics
|
June 10, 2017
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era
Saskia B Wortmann, Johannes A Mayr, Jean Marc Nuoffer, et al.
Genes
|
June 28, 2023
Case Report-An Inherited Loss-of-Function <i>NRXN3</i> Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions
René G Feichtinger, Martin Preisel, Karin Brugger, et al.
Brain : a Journal of Neurology
|
December 21, 2016
Treatable mitochondrial diseases: cofactor metabolism and beyond
Felix Distelmaier, Tobias B Haack, Saskia B Wortmann, et al.
Diagnostics (Basel, Switzerland)
|
May 27, 2023
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
Maria Veiga-da-Cunha, Saskia B Wortmann, Sarah C Grünert, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini
M Binkhorst, S B Wortmann, S Funke, et al.
JIMD Reports
|
April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Saskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Orphanet Journal of Rare Diseases
|
July 4, 2021
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M J van Wegberg, Mirian C H Janssen, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2021
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M J van Wegberg, Mirian C H Janssen, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2010
The 3-methylglutaconic acidurias: what's new?
Saskia B Wortmann, Leo A Kluijtmans, Udo F H Engelke, et al.
Page
of 21