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104,50 €1. LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
2. Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance
3. A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect
4. Heterozygous Monocarboxylate Transporter 1 (MCT1,
5. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
6. CoQ
7. Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI
8. Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain
9. A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts
10. Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age
11. The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis
12. Atypical Clinical Presentations of
13. Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation
14. Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency
15. Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Features
• Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
• All contributions rigorously peer-reviewed
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