A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

Author:

Motta Irene12,Filocamo Mirella3,Poggiali Erika12,Stroppiano Marina3,Dragani Alfredo4,Consonni Dario5,Barcellini Wilma6,Gaidano Gianluca7,Facchini Luca8,Specchia Giorgina9,Cappellini Maria Domenica12,

Affiliation:

1. Department of Medicine and Medical Specialities; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milan Italy

2. Department of Clinical Sciences and Community Health; University of Milan; Milan Italy

3. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto Giannina Gaslini; Genoa Italy

4. Department of Hematology; Ospedale Civile Spirito Santo; Pescara Italy

5. Epidemiology Unit; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milan Italy

6. Hematology and Bone Marrow Transplant Unit; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milan Italy

7. SCDU Ematologia; Dipartimento di Medicina Traslazionale; Università del Piemonte Orientale Amedeo Avogadro; Novara Italy

8. Hematology Unit; AO S. Maria Nuova; IRCCS; Reggio Emilia Italy

9. Department of Emergency and Organ Transplantation (D.E.T.O.); Hematology Section; University of Bari; Bari Italy

Funder

Ministero della Salute

Genzyme

Publisher

Wiley

Subject

Hematology,General Medicine

Reference21 articles.

1. Gaucher disease: a comprehensive review;Rosenbloom;Crit Rev Oncog,2013

2. The human glucocerebrosidase gene and pseudogene: structure and evolution;Horowitz;Genomics,1989

3. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease;Raghavan;Am J Hum Genet,1980

4. Gaucher disease: a diagnostic challenge for internists;Cassinerio;Eur J Intern Med,2014

5. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry;Weinreb;Am J Med,2002

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