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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega, Roberta; Marzollo, Antonio; Marinoni, Maddalena; Athanasakis, Emmanouil; Persico, Ilaria; Bianco, Anna Monica; Faleschini, Michela; Valencic, Erica; Simoncini, Daniela; Rossini, Linda; Corsolini, Fabio; La Bianca, Martina; Robustelli, Giuseppe; Gabelli, Maria; Agosti, Massimo; Biffi, Alessandra; Grotto, Paolo; Bozzi, Valeria; Noris, Patrizia; Burlina, Alberto B; D'Adamo, Adamo Pio; Tommasini, Alberto; Faletra, Flavio; Pastore, Annalisa; Savoia, Anna.
Afiliação
  • Bottega R; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, Via Ricerca Scientifica, 4, 35127, Padua.
  • Marinoni M; Maternal and Child Department, F. Del Ponte Hospital, Varese.
  • Athanasakis E; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Persico I; Department of Medical Sciences, University of Trieste, Trieste, Italy; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona.
  • Bianco AM; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Faleschini M; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Valencic E; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Simoncini D; Maternal and Child Department, F. Del Ponte Hospital, Varese.
  • Rossini L; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
  • Corsolini F; LABSIEM - Laboratory for the Study of Inborn Errors of Metabolism, Pediatric Clinic and Endocrinology, Istituto Giannina Gaslini, Genova.
  • La Bianca M; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Robustelli G; Maternal and Child Department, F. Del Ponte Hospital, Varese.
  • Gabelli M; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
  • Agosti M; Maternal and Child Department, F. Del Ponte Hospital, Varese.
  • Biffi A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
  • Grotto P; Pediatric Department, Hospital of Treviso - Oderzo, Treviso.
  • Bozzi V; Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Noris P; Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia.
  • Burlina AB; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Padova.
  • D'Adamo AP; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
  • Tommasini A; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
  • Faletra F; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Pastore A; King's College London, Dept. of Clinical Neuroscience, Denmark Hill Campus, London, United Kingdom; European Synchrotron Radiation Facility 71, Grenoble.
  • Savoia A; Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it.
Haematologica ; 107(3): 750-754, 2022 03 01.
Article em En | MEDLINE | ID: mdl-34788986
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trombocitopenia Limite: Humans Idioma: En Revista: Haematologica Ano de publicação: 2022 Tipo de documento: Article