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JIMD Reports|February 23, 2013
A young adult with sarcosinemia. No benefit from long duration treatment with memantineA Benarrosh, R Garnotel, A Henry, et al.JIMD Reports|February 23, 2013
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic DecompensationS Rodney, A BonehJIMD Reports|February 23, 2013
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)Allison Jay, Mary Seeterlin, Eleanor Stanley, et al.JIMD Reports|February 23, 2013
Leptin levels in children and adults with classic galactosaemiaIna Knerr, Karen P Coss, Peter P Doran, et al.JIMD Reports|February 23, 2013
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseasePranoot Tanpaiboon, Jennifer L Sloan, Patrick F Callahan, et al.JIMD Reports|February 23, 2013
Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four casesFiona M Lewis, David J Coman, Maryann Syrmis, et al.JIMD Reports|February 23, 2013
Stem cell transplantation for adult-onset krabbe disease: report of a caseMadeleine E Sharp, Cornelia Laule, Stephen Nantel, et al.JIMD Reports|February 23, 2013
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish PopulationLaura López-Marín, Luis G Gutiérrez-Solana, Luis Aldamiz-Echevarria Azuara, et al.JIMD Reports|February 23, 2013
An exceptional family with three consecutive generations affected by Wilson diseaseJames T Bennett, Kathleen B Schwarz, Phillip D Swanson, et al.JIMD Reports|February 23, 2013
Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by dietS Rubin, A L Le Piffer, M B Rougier, et al.Pageof 127