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JIMD Reports, Volume 29

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Cover of 'JIMD Reports, Volume 29'

Table of Contents

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    Book Overview
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    Chapter 297 Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
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    Chapter 336 LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
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    Chapter 372 Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
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    Chapter 493 CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
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    Chapter 495 Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.
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    Chapter 507 A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.
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    Chapter 508 Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age
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    Chapter 509 Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance
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    Chapter 513 Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI.
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    Chapter 517 A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.
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    Chapter 519 Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1 ) Deficiency as a Cause of Recurrent Ketoacidosis
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    Chapter 520 The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis
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    Chapter 521 Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
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    Chapter 525 Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
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    Chapter 526 Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. - PubMed - NCBI
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    Chapter 529 Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrosp... - PubMed - NCBI
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    Chapter 574 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
Attention for Chapter 507: A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.
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