JIMD Reports, Volume 37 (eBook)

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.- Galactose Epimerase Deficiency: Expanding the Phenotype.- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?.- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.- Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.- The Impact of Fabry Disease on Reproductive Fitness.- Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.- Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU).- Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.