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Journal of Inherited Metabolic Disease|August 2, 2025
Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic ReviewNina N Stolwijk, Laura van Dussen, Niels D Reijnhout, et al.Pediatric Neurology|August 3, 2019
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic AcidCharlotte M A Lubout, Susanna M I Goorden, Karin van den Hurk, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 21, 2022
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variantFleur Vansenne, Johanna M Fock, Irene Stolte-Dijkstra, et al.Neuropediatrics|December 22, 2025
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal PhosphateMarion Brands, Chloe de Puyraimond, Sidney M Gospe, et al.Clinical Genetics|August 31, 2021
Clinical, genetic, and histological features of centronuclear myopathy in the NetherlandsStacha F I Reumers, Corrie E Erasmus, Karlijn Bouman, et al.Life (Basel, Switzerland)|August 27, 2021
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction QuestionnaireJudith M Lionarons, Imelda J M de Groot, Johanna M Fock, et al.Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.Pageof 2