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JIMD Reports|March 6, 2023
Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosisLine Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, et al.JIMD Reports|March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiencyNatasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.JIMD Reports|March 6, 2023
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell linesStephen J Staklinski, Mario C Chang, Rebecca C Ahrens-Nicklas, et al.JIMD Reports|November 7, 2022
Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of BahrainZahra Alsahlawi, Emtithal Aljishi, Ammar Kheyami, et al.JIMD Reports|November 7, 2022
Trends and outcomes of children, adolescents, and adults hospitalized with inherited metabolic disorders: A population-based cohort studyStephanie Isabelle Hauser, Claudia Gregoriano, Henrik Koehler, et al.JIMD Reports|November 7, 2022
Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiencyChristopher Stockdale, Ann Bowron, Marie Appleton, et al.JIMD Reports|November 7, 2022
Primary carnitine deficiency is a life-long diseaseLoek L Crefcoeur, Mireille C Melles, Tobias A Bruning, et al.JIMD Reports|November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisAshley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.JIMD Reports|January 27, 2025
Liver transplantation in glycogen storage disease type III: A case-seriesSimon Gay, Adrien Bigot, Louis d'Alteroche, et al.Pageof 127