首页 | 本学科首页   官方微博 | 高级检索  
     


Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy
Authors:Angelo Pascarella  Chiara Terracciano  Olimpia Farina  Luca Lombardi  Teresa Esposito  Filomena Napolitano  Giuseppina Franzese  Giovanni Panella  Francesco Tuccillo  Giancarlo la Marca  Sergio Bernardini  Silvia Boffo  Antonio Giordano  Giuseppe Di Iorio  Mariarosa A.B. Melone  Simone Sampaolo
Affiliation:1. 2nd Division of Neurology, Department of Medicine, Surgery, Neurology, Metabolic and Aging Science, Reference Center for Neurological and Neuromuscular Rare Disease & Interuniversity Center for Research in Neurosciences, University of Campania “Luigi Vanvitelli”, Naples, Italy;2. Neurorehabilitation Unit and Research Lab. for Disorder of Consciousness, Maugeri ICS, Telese Terme, Italy;3. Division of Clinical Biochemistry, Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy;4. Molecular Genetics and Genomics Laboratory, Institute of Genetics and Biophysics, “Adriano Buzzati Traverso“, Italian National Research Council (CNR), Naples, Italy;5. IRCCS INM Neuromed, Pozzilli, Italy;6. Department of Experimental and Clinical Biomedical Sciences, University of Florence;7. Head, Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Offspring's Hospital, Florence, Italy;8. Department of Biology, Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, Pennsylvania;9. Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy
Abstract:
Keywords:glycogen storage myopathies  GSD II diagnostic algorithm  PAS‐positive lymphocytic granules  Pompe disease  screening method for glycogenosis
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号