JIMD Reports, Volume 39

1. Front Matter

   Pages i-vi

   PDF

2. Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency

   • Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti, Brunella Capaldo

   Pages 1-6

3. Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

   • Emanuela Manea, Paul Gissen, Simon Pope, Simon J. Heales, Spyros Batzios

   Pages 7-12

4. The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

   • Mari-Anne Vals, Sander Pajusalu, Mart Kals, Reedik Mägi, Katrin Õunap

   Pages 13-17

5. Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

   • Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M. Enns

   Pages 19-23

6. Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

   • Marcel du Moulin, Bastian Thies, Martin Blohm, Jun Oh, Markus J. Kemper, René Santer et al.

   Pages 25-30

7. Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

   • Valerie Lew, Louis Pena, Robert Edwards, Raymond Y. Wang

   Pages 31-37

8. Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

   • Elizabeth A. Bowman, Dennis Velakoulis, Patricia Desmond, Mark Walterfang

   Pages 39-43

9. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

   • Monica H. Wojcik, Klaas J. Wierenga, Lance H. Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A. Genetti et al.

   Pages 45-54

10. Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

    • A. Broomfield, J. Fletcher, P. Hensman, R. Wright, H. Prunty, J. Pavaine et al.

    Pages 55-62

11. Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

    • B. Merinero, P. Alcaide, E. Martín-Hernández, A. Morais, M. T. García-Silva, P. Quijada-Fraile et al.

    Pages 63-74

12. Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]

    • Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare

    Pages 75-81

13. Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

    • Irene C. Huffnagel, Egbert J. W. Redeker, Liesbeth Reneman, Frédéric M. Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The

    Pages 83-87

14. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

    • Paula J. Waters, Thomas M. Kitzler, Annette Feigenbaum, Michael T. Geraghty, Osama Al-Dirbashi, Patrick Bherer et al.

    Pages 89-96

15. High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

    • O. L. M. Meijer, P. van den Biggelaar, R. Ofman, F. A. Wijburg, N. van Vlies

    Pages 97-106

16. Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review

    • Emma Medford, Dougal Julian Hare, Anja Wittkowski

    Pages 107-116

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