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Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.Journal of Inherited Metabolic Disease|November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesEllen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.Journal of Medical Genetics|November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.Neurology|August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic DiseasesDaphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.Calcified Tissue International|June 6, 2019
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled PeriodAnthony A Portale, Thomas O Carpenter, Maria Luisa Brandi, et al.Journal of Inherited Metabolic Disease|December 4, 2023
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduriaSonam Gurung, Saketh Karamched, Dany Perocheau, et al.Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.Pageof 13