JIMD Reports, Volume 28 (eBook)

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.- Novel Direct Assay for Acetyl-CoA:α-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 Urinary Tract 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 α-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).