JIMD Reports, Volume 42

1. Front Matter

   Pages i-vi

   PDF

2. Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis

   • E. Rivers, B. C. Reynolds, S. Bunn, N. J. Leech, J. Straker, H. J. Lambert

   Pages 1-4

3. A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy

   • Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C. Tchan

   Pages 5-8

4. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

   • Kenneth I. Berger, Barbara K. Burton, Gregory D. Lewis, Mark Tarnopolsky, Paul R. Harmatz, John J. Mitchell et al.

   Pages 9-17

5. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

   • Shanti Balasubramaniam, Lisa G. Riley, Anand Vasudevan, Mark J. Cowley, Velimir Gayevskiy, Carolyn M. Sue et al.

   Pages 19-29

6. Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q₁₀ Deficiency in a Female Sib-Pair

   • Jessie C. Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R. Love, Rosamund Hill et al.

   Pages 31-36

7. The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria

   • Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby

   Pages 37-45

8. Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops

   • Ahmed Reda, Ann Van Schepdael, Erwin Adams, Prasanta Paul, David Devolder, Mohamed A. Elmonem et al.

   Pages 47-51

9. Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis

   • C. Bursle, K. Riney, J. Stringer, D. Moore, G. Gole, L. S. Kearns et al.

   Pages 53-60

10. Mitochondrial Disease in Children: The Nephrologist’s Perspective

    • Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana

    Pages 61-70

11. Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients

    • V. Hamilton, L. Santa María, K. Fuenzalida, P. Morales, L. R. Desviat, M. Ugarte et al.

    Pages 71-77

12. Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

    • Patryk Lipiński, Joanna Pawłowska, Teresa Stradomska, Elżbieta Ciara, Irena Jankowska, Piotr Socha et al.

    Pages 79-87

13. Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis

    • Amy Schadewald, Ericka Kimball, Li Ou

    Pages 89-97

14. Beneficial Effect of BH₄ Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

    • Monique G. M. de Sain-van der Velden, Willemijn F. E. Kuper, Marie-Anne Kuijper, Lenneke A. T. van Kats, Hubertus C. M. T. Prinsen, Astrid C. J. Balemans et al.

    Pages 99-103

15. Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

    • Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel

    Pages 105-111

16. Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant

    • Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho et al.

    Pages 113-119

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