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.
The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.

First Successful Conception Induced by a Male Cystinosis Patient

Glutaric Acidemia Type 1: A Case of Infantile Stroke
Treatment of Depression in Adults with Fabry Disease
Mutations in <i>GMPPB</i> Presenting with Pseudometabolic Myopathy
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to <i>ETFDH</i> Gene Mutations
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in <i>GM2A
</i>Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in <i>abcd1-</i>Deficient Mice
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening
Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1
A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.<p></p>