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JIMD Reports|September 30, 2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, et al.JIMD Reports|September 29, 2016
Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in PhenylketonuriaSusan E Waisbren, Sanjay P Prabhu, Patricia Greenstein, et al.JIMD Reports|April 19, 2017
Treatment of Depression in Adults with Fabry DiseaseNadia Ali, Scott Gillespie, Dawn LaneyJIMD Reports|April 14, 2017
First Successful Conception Induced by a Male Cystinosis PatientKoenraad R Veys, Kathleen W D'Hauwers, Angelique J C M van Dongen, et al.JIMD Reports|January 17, 2017
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry ApproachSaskia Koene, Ilse Dirks, Esmee van Mierlo, et al.JIMD Reports|March 17, 2021
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literatureOliver Heath, James Pitt, Simone Mandelstam, et al.JIMD Reports|March 17, 2021
Isomerization of trans-3-methylglutaconic acidDylan E Jones, J David Ricker, Laina M Geary, et al.JIMD Reports|March 17, 2021
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type ITroy C Lund, Terence M Doherty, Julie B Eisengart, et al.JIMD Reports|March 17, 2021
Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)Lourens J P Nonkes, Willemijn F E Kuper, Karin Berrens-Hogenbirk, et al.JIMD Reports|November 12, 2021
Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patientElodie Lebredonchel, Sandrine Duvet, Claire Douillard, et al.Pageof 128