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JIMD Reports|November 6, 2013
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 MutationBryce A Mendelsohn, Neil Mehta, Bilal Hameed, et al.JIMD Reports|November 7, 2013
Application of a second-tier newborn screening assay for c5 isoformsT Cloppenborg, N Janzen, Hj Wagner, et al.JIMD Reports|October 30, 2013
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndromeFelix Distelmaier, Peter Huppke, Peter Pieperhoff, et al.JIMD Reports|October 19, 2013
High dietary folic Acid and high plasma folate in children and adults with phenylketonuriaLinn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, et al.JIMD Reports|October 22, 2013
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndromeA C C Ho, C W Fung, T S Siu, et al.JIMD Reports|October 22, 2013
Liver engraftment and repopulation by in vitro expanded adult derived human liver stem cells in a child with ornithine carbamoyltransferase deficiencyEtienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, et al.JIMD Reports|October 22, 2013
Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a CatShoichi Wakitani, Shidow Torisu, Taiki Yoshino, et al.JIMD Reports|July 8, 2017
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase DeficiencyAnnalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, et al.JIMD Reports|February 26, 2018
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case ReportKazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, et al.JIMD Reports|November 18, 2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literatureTawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, et al.Pageof 127