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JIMD Reports|February 23, 2013
Autism spectrum disorder in a child with propionic acidemiaM Al-Owain, N Kaya, H Al-Shamrani, et al.JIMD Reports|February 23, 2013
A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALEYing Liu, Kristi Bentler, Bradford Coffee, et al.JIMD Reports|February 23, 2013
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry DiseaseMarkus Niemann, Arndt Rolfs, Anne Giese, et al.JIMD Reports|February 23, 2013
High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginaseKatja M J Heitink-Pollé, Berthil H C M T Prinsen, Tom J de Koning, et al.JIMD Reports|February 23, 2013
Orthotopic liver transplantation in an adult with cholesterol ester storage diseaseGraeme K Ambler, Matthew Hoare, Rebecca Brais, et al.JIMD Reports|February 23, 2013
Neonatal Bone Marrow Transplantation in MPS IIIA MiceAdeline A Lau, N Jannah Shamsani, Leanne K Winner, et al.JIMD Reports|February 23, 2013
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher diseaseMarina Siebert, Hugo Bock, Kristiane Michelin-Tirelli, et al.JIMD Reports|February 23, 2013
Prevalence and development of orthopaedic symptoms in the dutch hurler patient population after haematopoietic stem cell transplantationF J Stoop, M C Kruyt, M H van der Linden, et al.JIMD Reports|February 23, 2013
Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry diseaseA Pisani, L Spinelli, B Visciano, et al.JIMD Reports|February 23, 2013
The mild form of menkes disease: a 34 year progress report on the original caseM C Tchan, B Wilcken, J ChristodoulouPageof 127