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JIMD Reports|February 23, 2013
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interferenceLaura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, et al.JIMD Reports|February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explainedTessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.JIMD Reports|February 23, 2013
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial DysfunctionEllen H Jeninga, Monique de Vroede, Nicole Hamers, et al.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.Pageof 127