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JIMD Reports|November 6, 2013
Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington StateAshleigh Fleischman, John D Thompson, Mike GlassJIMD Reports|November 6, 2013
Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndromeKathleen A Delaney, Kyle R Rudser, Brianna D Yund, et al.JIMD Reports|October 8, 2013
Cystinosis with sclerotic bone lesionsS Sirrs, P Munk, P I Mallinson, et al.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.Pageof 127