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Neuropediatrics|February 6, 2010
Intracranial calcification after cord blood neonatal transplantation for krabbe diseaseA M Lehman, K R Schultz, K Poskitt, et al.Journal of Inherited Metabolic Disease|December 25, 2004
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathyN Makhseed, H D Vallance, M Potter, et al.Neurology|February 4, 2012
Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assaysP J Waters, A McKeon, M I Leite, et al.Human Mutation|December 25, 2007
Recommendations for locus-specific databases and their curationR G H Cotton, A D Auerbach, J S Beckmann, et al.Journal of Inherited Metabolic Disease|August 7, 2023
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1K van Vliet, A M Dijkstra, M J Bouva, et al.Pageof 19