JIMD Reports, Volume 18

Chapter 333 Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Chapter 337 Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

Chapter 344 Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

Chapter 345 Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease

Chapter 346 Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

Chapter 348 Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Chapter 350 Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

Chapter 351 Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B₁₂ Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Chapter 352 A Cause of Permanent Ketosis: GLUT-1 Deficiency

Chapter 353 JIMD Reports, Volume 18

Chapter 354 The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases.

Chapter 357 Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease

Chapter 358 JIMD Reports, Volume 18

Chapter 360 Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series.

Chapter 368 Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1 : An Exception to the Known Genotype–Phenotype Correlation