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JIMD Reports|February 23, 2016
Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase DeficiencyL Knowles, A A M Morris, J H WalterJIMD Reports|March 4, 2016
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat RestrictionsMarcus J Miller, Bret L Bostwick, Adam D Kennedy, et al.JIMD Reports|November 27, 2015
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent KetoacidosisShanti Balasubramaniam, Barry Lewis, Lawrence Greed, et al.JIMD Reports|November 30, 2015
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaFaiqa Imtiaz, Bashayer M Al-Mubarak, Abeer Al-Mostafa, et al.JIMD Reports|October 22, 2013
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusionLorenza Pugni, Enrica Riva, Carlo Pietrasanta, et al.JIMD Reports|August 27, 2014
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin MetabolismCelia Atkinson, Isabelle R Miousse, David Watkins, et al.JIMD Reports|December 24, 2013
Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian studyAnnalisa Sechi, Laura Deroma, Sabrina Paci, et al.JIMD Reports|July 7, 2014
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate TreatmentD Karall, G Mair, U Albrecht, et al.JIMD Reports|July 7, 2014
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 MutationsHeidi S Lumish, Yaping Yang, Fan Xia, et al.JIMD Reports|July 7, 2014
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrumMaria G Alessandrì, Manuela Casarano, Ilaria Pezzini, et al.Pageof 128