JIMD Reports - Volume 11

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Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis von Leung, Edward C. W., Mhanni, Aizeddin A., Reed, Martin, Whyte, Michael P., Landy, Hal, Greenberg, Cheryl R.

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

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

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

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

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Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency von Rodan, Lance Harrington, Mishra, Navin, Yau, Ivanna, Andrade, Andrea, Siriwardena, Komudi, Tein, Ingrid

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

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Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures von Belachew, Dina, Kazmerski, Traci, Libman, Ingrid, Goldstein, Amy C., Stevens, Susan T., DeWard, Stephanie, Vockley, Jerry, Sperling, Mark A., Balest, Arcangela L.

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Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) von Möllmann, Christian, Lampe, Christian G., Müller-Forell, Wibke, Scarpa, Maurizio, Harmatz, Paul, Schwarz, Manfred, Beck, Michael, Lampe, Christina

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

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Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate von Gavin, M., Wen, G. Y., Messing, J., Adelman, S., Logush, A., Jenkins, E. C., Brown, W. T., Velinov, M.

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Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses von Mendelsohn, Nancy J., Wood, Timothy, Olson, Rebecca A., Temme, Renee, Hale, Susan, Zhang, Haoyue, Read, Lisa, White, Klane K.

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Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects von Uribe, Alfredo, Giugliani, Roberto

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Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type von Backe, Paul Hoff, Ytre-Arne, Mari, Røhr, Åsmund Kjendseth, Brodtkorb, Else, Fowler, Brian, Rootwelt, Helge, Bjørås, Magnar, Mørkrid, Lars

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

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

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

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

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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 von Vairo, Filippo, Netto, Cristina, Dorneles, Alicia, Mittelstadt, Suzana, Wilke, Matheus, Doneda, Divair, Michelin, Kristiane, Ribeiro, Camila Blos, Quevedo, Amanda, Vieira, Tatiane, Nalin, Tatiele, Lueska, Sônia, Schwartz, Ida Vanessa D.

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