Showing results (91-100 of 128) with videos related to
Sort By:
Pageof 13
JAMA Neurology|December 22, 2018
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic EncephalopathyLynne Rumping, Benjamin Büttner, Oliver Maier, et al.Journal of Inherited Metabolic Disease|October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolismVivian Lehmann, Imre F Schene, Arif I Ardisasmita, et al.Journal of Inherited Metabolic Disease|July 23, 2014
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national surveyMarion M G Brands, Deniz Güngör, Johanna M P van den Hout, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themesSabine A Fuchs, Imre F Schene, Gautam Kok, 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.Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.Neurology|June 5, 2016
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophyDiane F van Rappard, Marianna Bugiani, Jaap J Boelens, et al.Orphanet Journal of Rare Diseases|January 20, 2019
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedureGé-Ann Kuiper, Eveline J Langereis, Sandra Breyer, et al.Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disabilityGlen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, et al.Pageof 13