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.

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

Novel Direct Assay for Acetyl-CoA: -Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate
Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
Lower UrinaryTract Symptoms and Incontinence in Children with Pompe Disease
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice
In Patients with an -Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease
In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History
Multiple, Successful Pregnancies in Pompe Disease
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).