JIMD Reports - Volume 11

1. 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, Kristiane Michelin, Camila Blos Ribeiro, Amanda Quevedo, Tatiane Vieira, Tatiele Nalin, Sônia Lueska, Ida Vanessa D. Schwartz

2. 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

3. 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, K. Elizabeth Allen, Emma Hobson

4. 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, Jerry Vockley, Mark A. Sperling, Arcangela L. Balest

5. Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
E. Santos Silva, M. L. Cardoso, L. Vilarinho, M. Medina, C. Barbot, E. Martins

6. Motor and Speech Disorders in Classic Galactosemia
Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg

7. Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation
Sheetal Sharda, Suresh Kumar Angurana, Mandeep Walia, Savita Attri

8. Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis
Else R. Danielsen, Allan M. Lund, Carsten Thomsen

9. Early Cardiac Changes in Children with Anderson–Fabry Disease
Stepan Havranek, Ales Linhart, Zuzana Urbanova, Uma Ramaswami

10. 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, Michael Beck, Christina Lampe

11. 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

12. 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, Magnar Bjørås, Lars Mørkrid

13. 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, W. T. Brown, M. Velinov

14. A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus
A Broomfield, R Gunny, I Ali, A Vellodi, P Prabhakar

15. 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, Brandy A. Westerfield, Anjan S. Batra, Raymond Yu Jeang Wang, Natalie M. Gallant, Liana S. Pena, Hu Wang, Taosheng Huang, Sunita Bhuta, Daniel J. Penny, Edward R. McCabe, Virginia E. Kimonis

16. 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

17. Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
Pauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, Philippe Labrune, Isabelle Correia, Patrice Therond, Emmanuel Jacquemin, Abdelhamid Slama

18. 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, Lisa Read, Klane K. White

19. Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect
R. Parini, F. Furlan, A. Brambilla, D. Codazzi, S. Vedovati, C. Corbetta, T. Fedeli, B. Merinero, B. Pérez, M. Ugarte

20. Socio-emotional Problems in Children with CDG
K. F. E. Loo, L. Dongen, M. Mohamed, T. Gardeitchik, T. W. Kouwenberg, S. B. Wortmann, R. J. T. Rodenburg, D. J. Lefeber, E. Morava, C. M. Verhaak

21. Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family
Sally P. Stabler, Mark Korson, Reena Jethva, Robert H. Allen, Jan P. Kraus, Elaine B. Spector, Conrad Wagner, S. Harvey Mudd

22. Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan
Yin-Hsiu Chien, Ni-Chung Lee, Mei-Chyn Chao, Li-Chu Chen, Li-Hsin Chen, Chun-Ching Chien, Hui-Chen Ho, Jeng-Hung Suen, Wuh-Liang Hwu

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology