JIMD Reports, Volume 41

1. Front Matter

   Pages i-vi

   PDF

2. Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment

   • A. S. Davison, B. Norman, A. M. Milan, A. T. Hughes, M. Khedr, J. Rovensky et al.

   Pages 1-10

3. Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

   • P. Phowthongkum, C. Ittiwut, V. Shotelersuk

   Pages 11-16

4. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease

   • Karolina M. Stepien, Su Han Lum, J. Edmond Wraith, Christian J. Hendriksz, Heather J. Church, David Priestman et al.

   Pages 17-23

5. Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

   • Adam C. Cotton, R. B. Bell, H. A. Jinnah

   Pages 25-27

6. Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

   • Karolina M. Stepien, Gregory M. Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja et al.

   Pages 29-36

7. The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients

   • Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A. Hughes

   Pages 37-45

8. Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

   • William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra et al.

   Pages 47-51

9. Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

   • Bryony Langford, Megan Besford, Aimée Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher et al.

   Pages 53-62

10. Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

    • Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.

    Pages 63-72

11. Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature

    • Josefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, Asmus Vogel

    Pages 73-80

12. Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series

    • A. Selvanathan, C. Ellaway, C. Wilson, P. Owens, P. J. Shaw, K. Bhattacharya

    Pages 81-89

13. Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress

    • Olivia Ambler, Emma Medford, Dougal J. Hare

    Pages 91-100

14. P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years

    • Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda et al.

    Pages 101-107

15. Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone

    • A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes et al.

    Pages 109-117

16. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

    • Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern

    Pages 119-129

17. Correction to: Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

    • Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.

    Pages C1-C1

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.

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

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

  Matthias Baumgartner

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

  Marc Patterson

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

  Shamima Rahman

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

  Johannes Zschocke

• Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

  Verena Peters

Policies and ethics