JIMD Reports, Volume 18

Front Matter....Pages i-vi
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)....Pages 1-11
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....Pages 13-22
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I....Pages 23-32
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease....Pages 33-39
Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments....Pages 41-50
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease....Pages 51-62
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III....Pages 63-68
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B 12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario....Pages 69-77
A Cause of Permanent Ketosis: GLUT-1 Deficiency....Pages 79-83
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation....Pages 85-92
The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases....Pages 93-105
Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease....Pages 107-115
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?....Pages 117-124
Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series....Pages 125-134
Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1 : An Exception to the Known Genotype–Phenotype Correlation....Pages 135-137