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Analytica Chimica Acta|March 28, 2025
Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMSMaria van der Ham, Eva Hoytema van Konijnenburg, Wouter van Rossum, et al.
European Journal of Medical Genetics|August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.
Stem Cells and Development|March 24, 2022
Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic LeukodystrophyKarin Melanie Cabanillas Stanchi, Judith Böhringer, Manuel Strölin, et al.
Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum DiseaseIsabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Clinical Genetics|February 15, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Omar Nafie, Sana' A S Al Hait, et al.
Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.
Redox Biology|October 28, 2022
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H<sub>2</sub>S homeostasisViktor Kožich, Bernd C Schwahn, Jitka Sokolová, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical managementLucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
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