JIMD Reports, Volume 45 (eBook)

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease.- Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.- Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.- The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism.- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.- Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.- Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.- Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?.- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.