JIMD Reports, Volume 29 (eBook)

LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI.- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis.- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?.- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.