JIMD Reports . Volume 17 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters

• Pubblicazione: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014
• Edizione: 1st ed. 2014.
• Descrizione fisica: 1 online resource (95 p.)
• Disciplina: 616.39042
• Soggetto topico: Metabolism, Inborn errors of; Metabolism - Disorders; Pediatrics; Human physiology; Metabolism, Inborn Errors; Metabolic Diseases; Human Genetics; Human Physiology
• Persona (resp. second.): ZschockeJohannes; GibsonKenneth Michael <1955->; BrownGarry A.; MoravaEva; PetersVerena <1968->
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references.
• Nota di contenuto: Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report / R. M. K. Stewart, M. C. Briggs, J. C. Jarvis, J. A. Gallagher, L. Ranganath -- Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment / D. Karall, G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger et al. -- A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus / Alessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, Chiara Rigon, Nicoletta Gasparotto, Matteo Cassina et al. -- Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis / Guy Helman, Maria Belen Pappa, Phillip L. Pearl -- Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort / Andrew Talbot, Joanna R. Ghali, Kathy Nicholls -- The Complexity of Newborn Screening Follow-Up in Phenylketonuria / Leah E. Hecht, Ann E. Wessel, Harvey L. Levy, Gerard T. Berry -- Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia / Britt van Erven, Myrna M. M. Römers, M. Estela Rubio-Gozalbo -- Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening / Mari Mori, John R. Mytinger, Lisa C. Martin, Dennis Bartholomew, Scott Hickey -- Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey / Nesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger et al. -- A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV / Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag et al. -- Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency / Annapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt et al. -- Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype / Dong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu -- Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism / Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian A. J. Raiman -- Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up / L. van der Tol, David Cassiman, Gunnar Houge, Mirian C. Janssen, Robin H Lachmann, Gabor E Linthorst et al. -- Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III / Alessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini -- Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis / Guy Helman, Maria Belen Pappa, Phillip L. Pearl.
• Sommario/riassunto: 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.
• Titolo autorizzato: JIMD Reports
• ISBN: 3-662-44578-6
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910300350803321
• Lo trovi qui: Univ. Federico II
• Serie: JIMD Reports, . 2192-8304 ; ; v. 17