JIMD Reports - Volume 11

1. Front Matter

   Pages i-vii

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2. Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

   • Filippo Vairo, Cristina Netto, Alicia Dorneles, Suzana Mittelstadt, Matheus Wilke, Divair Doneda et al.

   Pages 1-6

3. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency

   • Lance Harrington Rodan, Navin Mishra, Ivanna Yau, Andrea Andrade, Komudi Siriwardena, Ingrid Tein

   Pages 7-11

4. A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

   • Claire Searle, Brage Storstein Andresen, Ed Wraith, Jamie Higgs, Deborah Gray, Alison Mills et al.

   Pages 13-16

5. Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

   • Dina Belachew, Traci Kazmerski, Ingrid Libman, Amy C. Goldstein, Susan T. Stevens, Stephanie DeWard et al.

   Pages 17-24

6. Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

   • E. Santos Silva, M. L. Cardoso, L. Vilarinho, M. Medina, C. Barbot, E. Martins

   Pages 25-30

7. Motor and Speech Disorders in Classic Galactosemia

   • Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg

   Pages 31-41

8. Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation

   • Sheetal Sharda, Suresh Kumar Angurana, Mandeep Walia, Savita Attri

   Pages 43-47

9. Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

   • Else R. Danielsen, Allan M. Lund, Carsten Thomsen

   Pages 49-52

10. Early Cardiac Changes in Children with Anderson–Fabry Disease

    • Stepan Havranek, Ales Linhart, Zuzana Urbanova, Uma Ramaswami

    Pages 53-64

11. Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

    • Christian Möllmann, Christian G. Lampe, Wibke Müller-Forell, Maurizio Scarpa, Paul Harmatz, Manfred Schwarz et al.

    Pages 65-72

12. Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

    • Edward C. W. Leung, Aizeddin A. Mhanni, Martin Reed, Michael P. Whyte, Hal Landy, Cheryl R. Greenberg

    Pages 73-78

13. Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

    • Paul Hoff Backe, Mari Ytre-Arne, Åsmund Kjendseth Røhr, Else Brodtkorb, Brian Fowler, Helge Rootwelt et al.

    Pages 79-85

14. Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

    • M. Gavin, G. Y. Wen, J. Messing, S. Adelman, A. Logush, E. C. Jenkins et al.

    Pages 87-92

15. A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

    • Broomfield A, Gunny R, Ali I, Vellodi A, Prabhakar P

    Pages 93-97

16. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

    • Yuxin Fan, Jon Steller, Iris L. Gonzalez, Wim Kulik, Michelle Fox, Richard Chang et al.

    Pages 99-106

17. Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

    • Alfredo Uribe, Roberto Giugliani

    Pages 107-116

18. Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases

    • Pauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, Philippe Labrune, Isabelle Correia, Patrice Therond et al.

    Pages 117-123

19. Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

    • Nancy J. Mendelsohn, Timothy Wood, Rebecca A. Olson, Renee Temme, Susan Hale, Haoyue Zhang et al.

    Pages 125-132

20. Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

    • R. Parini, F. Furlan, A. Brambilla, D. Codazzi, S. Vedovati, C. Corbetta et al.

    Pages 133-137

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.

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

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

  Johannes Zschocke

• Clinical Pharmacology Unit, Division of Health Sciences Washington State University, Spokane, USA

  K Michael Gibson

• Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

  Garry Brown

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

  Eva Morava

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

  Verena Peters

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