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Journal of Medical Genetics|July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort studyLoek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.Clinical Genetics|June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activitySiying Lin, Anthony G Robson, Dorothy A Thompson, et al.Journal of Inherited Metabolic Disease|February 6, 2025
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians GroupMichel Tchan, Anna Lehman, Laura van Dussen, et al.Circulation. Cardiovascular Imaging|June 2, 2018
Cardiac Phenotype of Prehypertrophic Fabry DiseaseSabrina Nordin, Rebecca Kozor, Shanat Baig, et al.Frontiers in Radiology|June 3, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalitiesElise A Ferreira, Machteld M Oud, Erik-Jan Kamsteeg, et al.Calcified Tissue International|September 18, 2025
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UKJudith Bubbear, Robin Lachmann, Elaine Murphy, et al.Journal of Inherited Metabolic Disease|December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.Circulation. Genomic and Precision Medicine|February 6, 2026
Cardiovascular Morbidity and Mortality in Fabry DiseaseEmanuele Monda, Athanasios Bakalakos, Annamaria Del Franco, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.Journal of Inherited Metabolic Disease|December 9, 2023
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international surveyKarolina M Stepien, Janneke G Langendonk, Myriam Dao, et al.Pageof 13