JIMD Reports, Volume 28 - Morava, Eva.; Baumgartner, Matthias; Patterson, Marc.; Rahman, Shamima; Zschocke, Johannes; Peters, Verena; SpringerLink (Online service) (Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2016)
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).
Keywords: Human genetics; Metabolic diseases; Pediatrics; Molecular biology; Human Genetics; Metabolic Diseases; Pediatrics; Molecular Medicine