JIMD Reports, Volume 32

Front Matter....Pages i-vi
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme....Pages 1-6
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients....Pages 7-14
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study....Pages 15-24
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings....Pages 25-32
Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles....Pages 33-39
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis....Pages 41-49
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease....Pages 51-57
Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants....Pages 59-67
A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria....Pages 69-79
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression....Pages 81-85
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy....Pages 87-94
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise....Pages 95-100
Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy....Pages 101-104
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias....Pages 105-115
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....Pages 117-124