JIMD Reports, Volume 34 (eBook)

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014.- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations.- Phenotype and Genotype Expansion.- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.- Delayed Infusion Reactions to Enzyme Replacement Therapies.- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria.- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables.- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance.- COXPD9 an Evolving Multisystem Disease.- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency