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JIMD Reports|February 23, 2013
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle TissueAida Font, Frederic Tort, Aleix Navarro-Sastre, et al.JIMD Reports|February 23, 2013
Carpal tunnel syndrome in fabry diseaseJoanna Ghali, Anand Murugasu, Timothy Day, et al.JIMD Reports|February 23, 2013
The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorderAlison James, Christian J Hendriksz, Owen AddisonJIMD Reports|February 23, 2013
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol TraffickingStefania Zampieri, Bruno Bembi, Natalia Rosso, et al.JIMD Reports|February 23, 2013
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case ReportIrene De Biase, Neena Lorenzana Champaigne, Richard Schroer, et al.JIMD Reports|February 23, 2013
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experienceJoanna Ghali, Kathy Nicholls, Charles Denaro, et al.JIMD Reports|February 23, 2013
COG5-CDG with a Mild Neurohepatic PresentationC W Fung, G Matthijs, L Sturiale, et al.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.Pageof 127