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JIMD Reports|February 23, 2013
Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of TreatmentFilippo Vairo, Cristina Netto, Alicia Dorneles, et al.JIMD Reports|February 23, 2013
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I diseaseA Dursun, R K Ozgül, S Sivri, et al.JIMD Reports|February 23, 2013
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with IdursulfaseMichel C Tchan, Kerry T Devine, David O SillenceJIMD Reports|February 23, 2013
Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional studyRigoberto Gadelha Chaves, Janice Carneiro Coelho, Kristiane Michelin-Tirelli, et al.JIMD Reports|February 23, 2013
Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type iaAlix Mollet-Boudjemline, Aurélie Hubert-Buron, Catherine Boyer-Neumann, et al.JIMD Reports|February 23, 2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.JIMD Reports|February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)M L Couce, D E Castiñeiras, J D Moure, et al.JIMD Reports|February 23, 2013
Phenotype-Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT GeneAriadna González-del Angel, José Velázquez-Aragón, Miguel A Alcántara-Ortigoza, et al.JIMD Reports|February 23, 2013
Onset of adreno-leukodystrophy after medulloblastoma therapy: causal connection or coincidence?G Deib, A Poretti, A Meoded, et al.JIMD Reports|February 23, 2013
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in EstoniaK Joost, K Ounap, R Zordania, et al.Pageof 125