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Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.Medrxiv : the Preprint Server for Health Sciences|June 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatmentI J J Muffels, K A Kantautas, G MacDonald, et al.Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.Journal of Inherited Metabolic Disease|June 20, 2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centresT Zwickler, M Lindner, H I Aydin, et al.Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.Journal of Inherited Metabolic Disease|July 31, 2009
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parametersF Hörster, S F Garbade, T Zwickler, et al.Pageof 9