JIMD Reports, Volume 19

Chapter 349 A De Novo Variant in Galactose-1-P Uridylyltransferase ( GALT ) Leading to Classic Galactosemia

Chapter 355 Refsum Disease Presenting with a Late-Onset Leukodystrophy

Chapter 356 Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.

Chapter 361 One Year Experience of Pheburane ® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

Chapter 362 Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

Chapter 363 Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Chapter 364 Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3 : Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis

Chapter 366 Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening

Chapter 370 Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

Chapter 374 Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Chapter 375 JIMD Reports, Volume 19

Chapter 376 Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome

Chapter 378 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

Chapter 379 A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Chapter 433 Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature