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JIMD Reports, Volume 32

Overview of attention for book
Cover of 'JIMD Reports, Volume 32'

Table of Contents

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    Book Overview
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    Chapter 537 Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias
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    Chapter 541 Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
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    Chapter 547 Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
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    Chapter 553 Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study
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    Chapter 556 Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
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    Chapter 560 Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme
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    Chapter 561 Management of an LCHADD Patient During Pregnancy and High Intensity Exercise
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    Chapter 562 Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy
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    Chapter 564 Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles
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    Chapter 566 Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants
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    Chapter 567 Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis
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    Chapter 568 A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria
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    Chapter 570 Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression
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    Chapter 571 The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease
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    Chapter 572 Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients
Attention for Chapter 547: Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings
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