Showing results (71-80 of 115) with videos related to
Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.Neuromuscular Disorders : NMD|December 31, 2023
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history studyKarlijn Bouman, Anne T M Dittrich, Jan T Groothuis, et al.Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.Mitochondrion|February 23, 2018
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.Journal of Inherited Metabolic Disease|October 22, 2020
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiencyCecilia Marelli, Christian Lavigne, Karolina M Stepien, et al.Molecular Genetics and Metabolism|October 9, 2013
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort studySerwet Demirdas, Heleen Maurice-Stam, Carolien C A Boelen, et al.Molecular Genetics and Metabolism|January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypesMendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.Transfusion|August 19, 2011
Erythrocytapheresis versus phlebotomy in the initial treatment of HFE hemochromatosis patients: results from a randomized trialEva Rombout-Sestrienkova, Fred H M Nieman, Brigitte A B Essers, et al.Journal of Inherited Metabolic Disease|December 18, 2019
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypesMendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.Pageof 12