JIMD Reports, Volume 18

1. Front Matter

   Pages i-vi

   PDF

2. Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

   • Adrian Quartel, Christian J. Hendriksz, Rossella Parini, Sue Graham, Ping Lin, Paul Harmatz

   Pages 1-11

3. 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

   • Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, Lina Eliasson, John Weinman, Sandrine Roche et al.

   Pages 13-22

4. Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

   • Richard D. Beegle, Laurie M. Brown, David A. Weinstein

   Pages 23-32

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

   • Yohta Shimada, Erica Nishimura, Hiroo Hoshina, Hiroshi Kobayashi, Takashi Higuchi, Yoshikatsu Eto et al.

   Pages 33-39

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

   • Virginia G. Wadley, Leslie A. McClure, David G. Warnock, Caroline L. Lassen-Greene, Robert J. Hopkin, Dawn A. Laney et al.

   Pages 41-50

7. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

   • Liam R. Brunham, Martin H. Kang, Clara Van Karnebeek, Singh N. Sadananda, Jennifer A. Collins, Lin-Hua Zhang et al.

   Pages 51-62

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

   • Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T. van der Ploeg, Frits A. Wijburg, Jaap Jan Boelens

   Pages 63-68

9. 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

   • A. Ferrand, V. M. Siu, C. A. Rupar, M. P. Napier, O. Y. Al-Dirbashi, P. Chakraborty et al.

   Pages 69-77

10. A Cause of Permanent Ketosis: GLUT-1 Deficiency

    • Alexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, Alice Kuster

    Pages 79-83

11. Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

    • M. J. Fraidakis, C. Liadinioti, L. Stefanis, A. Dinopoulos, R. Pons, M. Papathanassiou et al.

    Pages 85-92

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

    • Gianluigi Mazzoccoli, Tommaso Mazza, Manlio Vinciguerra, Stefano Castellana, Maurizio Scarpa

    Pages 93-105

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

    • Christos Sotiropoulos, George Theodorou, Constantina Repa, Theodoros Marinakis, Eugenia Verigou, Elena Solomou et al.

    Pages 107-115

14. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

    • Danique van Vliet, Esther van Dam, Margreet van Rijn, Terry G. J. Derks, Gineke Venema-Liefaard, Marrit M. Hitzert et al.

    Pages 117-124

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

    • Amy Brown, Louise Crowe, Miriam H. Beauchamp, Vicki Anderson, Avihu Boneh

    Pages 125-134

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

    • Allan Bayat, Mette Christensen, Flemming Wibrand, Morten Duno, Allan Lund

    Pages 135-137

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

• Mendelian disorder
• endocrinology
• inherited metabolic diseases
• medical genetics
• pediatrics
• metabolic disease

• Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

  Matthias Baumgartner

• Department of Pediatrics IGMD, Tulane University Medical School Hayward Genetics Center, New Orleans, USA

  Eva Morava

• Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

  Marc Patterson

• Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

  Shamima Rahman

• Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

  Verena Peters

Policies and ethics