JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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