JIMD Reports - Case and Research Reports, 2012/6

1. Partial Pyridoxine Responsiveness in PNPO Deficiency

   • Phillip L. Pearl, Keith Hyland, J Chiles, Colleen L McGavin, Yuezhou Yu, Donald Taylor

   Pages 139-142

2. Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases

   • Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I. Melegh et al.

   Pages E1-E1

3. Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

   • N. Ramanathan, M. Ahmed, E. Raffan, C. L. Stewart, S. O’Rahilly, R. K. Semple et al.

   Pages E3-E3

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.

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

• Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• Biological Sciences, Michigan Technological University, Houghton, USA

  K. Michael Gibson

• Department of Biochemistry Genetics Unit, University of Oxford, Oxford, UK

  Garry Brown

• Medical Center Department of Pediatrics IGMD, Radboud University Nijmegen, Nijmegen, Netherlands

  Eva Morava

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

  Verena Peters

Policies and ethics