JIMD Reports, Volume 32 (eBook)

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