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JIMD Reports|February 23, 2013
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophyRonald Thibert, Keith Hyland, Joe Chiles, et al.JIMD Reports|February 23, 2013
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complicationsKamer Tezcan, Kristal T Louie, Yong Qu, et al.JIMD Reports|February 23, 2013
Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatmentKenneth A Myers, Melanie Reeves, Xing-Chang Wei, et al.JIMD Reports|February 23, 2013
Altered carbon dioxide metabolism and creatine abnormalities in rett syndromeNicky S J Halbach, Eric E J Smeets, Jörgen Bierau, et al.JIMD Reports|February 23, 2013
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick diseaseBeata Tóth, Melinda Erdős, Annamária Székely, et al.JIMD Reports|February 23, 2013
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with IdursulfaseGiovanni V Coppa, Dania Buzzega, Lucia Zampini, et al.JIMD Reports|February 23, 2013
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-MannosidosisEvelien Zoons, Tom J de Koning, Nico G G M Abeling, et al.JIMD Reports|February 23, 2013
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different PhenotypeS Huybrechts, C De Laet, P Bontems, et al.JIMD Reports|February 23, 2013
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)C R D C Quaio, H Grinberg, M L C Vieira, et al.JIMD Reports|February 23, 2013
Homocysteine measurement in dried blood spot for neonatal detection of homocystinuriasAhmad N Alodaib, Kevin Carpenter, Veronica Wiley, et al.Pageof 127