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JIMD Reports, Volume 28

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Cover of 'JIMD Reports, Volume 28'

Table of Contents

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    Book Overview
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    Chapter 443 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
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    Chapter 492 Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.
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    Chapter 496 Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.
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    Chapter 499 Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
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    Chapter 501 Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.
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    Chapter 502 Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
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    Chapter 503 In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
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    Chapter 505 Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
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    Chapter 506 Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
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    Chapter 511 JIMD Reports, Volume 28
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    Chapter 512 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
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    Chapter 514 Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
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    Chapter 515 LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
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    Chapter 516 In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.
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    Chapter 518 Multiple, Successful Pregnancies in Pompe Disease.
Attention for Chapter 515: LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
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