JIMD Reports, Volume 29 /
| Autor Corporativo: | |
|---|---|
| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2016.
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| Edición: | 1st ed. 2016. |
| Colección: | JIMD Reports,
29 |
| Materias: |
Tabla de Contenidos:
- 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.