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JIMD Reports|February 23, 2013
Complete Deletion of a POLG1 Allele in a Patient with Alpers SyndromeKarin Naess, Michela Barbaro, Helene Bruhn, et al.JIMD Reports|February 23, 2013
Lymphatic edema in congenital disorders of glycosylationRuud Hj Verstegen, Miranda Theodore, Hans van de Klerk, et al.JIMD Reports|February 23, 2013
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysisJulnar Usta, Hussein Abu Daya, Houssam Halawi, et al.JIMD Reports|February 23, 2013
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher diseaseAbdallah F Elias, Maria Ronningen Johnson, John K Boitnott, et al.JIMD Reports|February 23, 2013
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene MutationsAndrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, et al.JIMD Reports|February 23, 2013
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria PatientsMei-Ying Liu, Tze-Tze Liu, Yang-Ling Yang, et al.JIMD Reports|February 23, 2013
Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma BotryoidesE Martín-Hernández, P Quijada-Fraile, L Oliveros-Leal, et al.JIMD Reports|February 23, 2013
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsE Martins, A Marcão, A Bandeira, et al.JIMD Reports|February 23, 2013
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn ScreeningU Spiekerkoetter, M Mueller, M Sturm, et al.Pageof 128