GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

• Roberta Bottega,
• Antonio Marzollo,
• Maddalena Marinoni,
• Emmanouil Athanasakis,
• Ilaria Persico,
• Anna Monica Bianco,
• Michela Faleschini,
• Erica Valencic,
• Daniela Simoncini,
• Linda Rossini,
• Fabio Corsolini,
• Martina La Bianca,
• Giuseppe Robustelli,
• Maria Gabelli,
• Massimo Agosti,
• Alessandra Biffi,
• Paolo Grotto,
• Valeria Bozzi,
• Patrizia Noris,
• Alberto B. Burlina,
• Adamo Pio d'Adamo,
• Alberto Tommasini,
• Flavio Faletra,
• Annalisa Pastore,
• Anna Savoia

Affiliations

Roberta Bottega

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Antonio Marzollo

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

Maddalena Marinoni

Maternal and Child Department, F. Del Ponte Hospital, Varese

Emmanouil Athanasakis

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Ilaria Persico

Department of Medical Sciences, University of Trieste, Trieste, Italy; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona

Anna Monica Bianco

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Michela Faleschini

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Erica Valencic

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Daniela Simoncini

Maternal and Child Department, F. Del Ponte Hospital, Varese

Linda Rossini

Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua

Fabio Corsolini

LABSIEM - Laboratory for the Study of Inborn Errors of Metabolism, Pediatric Clinic and Endocrinology, Istituto Giannina Gaslini, Genova

Martina La Bianca

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Giuseppe Robustelli

Maternal and Child Department, F. Del Ponte Hospital, Varese

Maria Gabelli

Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua

Massimo Agosti

Maternal and Child Department, F. Del Ponte Hospital, Varese

Alessandra Biffi

Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua

Paolo Grotto

Pediatric Department, Hospital of Treviso - Oderzo, Treviso

Valeria Bozzi

Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia

Patrizia Noris

Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia

Alberto B. Burlina

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children’s Health, University Hospital of Padova, Padova

Adamo Pio d'Adamo

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste

Alberto Tommasini

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste

Flavio Faletra

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste

Annalisa Pastore

King’s College London, Dept. of Clinical Neuroscience, Denmark Hill Campus, London, United Kingdom; European Synchrotron Radiation Facility 71, Grenoble

Anna Savoia

Istitute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste