Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy-Reference-Cited by-同舟云学术

Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy

Published:2018-02-22 Issue:8 Volume:233 Page:5829-5837
ISSN:0021-9541
Container-title:Journal of Cellular Physiology
language:en
Short-container-title:J Cell Physiol

Author:

Pascarella Angelo¹²,Terracciano Chiara³^ORCID,Farina Olimpia¹,Lombardi Luca¹,Esposito Teresa⁴⁵,Napolitano Filomena¹,Franzese Giuseppina¹,Panella Giovanni¹,Tuccillo Francesco¹,la Marca Giancarlo⁶,Bernardini Sergio³,Boffo Silvia⁷^ORCID,Giordano Antonio⁷⁸,Di Iorio Giuseppe¹,Melone Mariarosa A.B.¹⁷^ORCID,Sampaolo Simone¹

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 NeurosciencesUniversity of Campania “Luigi Vanvitelli”NaplesItaly

2. Neurorehabilitation Unit and Research Lab. for Disorder of ConsciousnessMaugeri ICSTelese TermeItaly

3. Division of Clinical BiochemistryDepartment of Experimental Medicine and SurgeryUniversity of Rome Tor VergataRomeItaly

4. Molecular Genetics and Genomics LaboratoryInstitute of Genetics and Biophysics, “Adriano Buzzati Traverso“, Italian National Research Council (CNR)NaplesItaly

5. IRCCS INM NeuromedPozzilliItaly

6. Department of Experimental and Clinical Biomedical SciencesUniversity of Florence; Head, Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Offspring's HospitalFlorenceItaly

7. Department of Biology, Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, College of Science and TechnologyTemple UniversityPhiladelphiaPennsylvania

8. Department of Medicine, Surgery and NeuroscienceUniversity of SienaSienaItaly

Funder

Pennsylvania Department of Health

Regione Campania

Publisher

Wiley

Subject

Cell Biology,Clinical Biochemistry,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcp.26365

Reference44 articles.

1. Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre

2. Vici syndrome: a review

3. Biochemical and ultrastructural study of leucocytes in type II glycogenosis;De Barsy T.;Archives Internationales de Physiologie et de Biochimie,1975

4. Cellular metabolic and autophagic pathways: Traffic control by redox signaling

5. The fine tuning of metabolism, autophagy and differentiation during in vitro myogenesis

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