<i>GALE</i> variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction-Reference-Cited by-同舟云学术

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

Published:2023-02-27 Issue:1 Volume:34 Page:
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Marín-Quílez Ana¹²^ORCID,Di Buduo Christian A.³^ORCID,Benito Rocío¹,Balduini Alessandra³⁴^ORCID,Rivera José²^ORCID,Bastida Jose Maria⁵^ORCID

Affiliation:

1. IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain

2. Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, Murcia, Spain

3. Department of Molecular Medicine, University of Pavia, Pavia, Italy

4. Department of Biomedical Engineering, Tufts University, Medford, MA, USA

5. Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca, Spain

Funder

Instituto de Salud Carlos III

Fundación Mutua Madrileña

European Commission

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2023.2176699

Reference24 articles.

1. Analysis of UDP-galactose 4′-epimerase mutations associated with the intermediate form of type III galactosaemia

2. Hereditary galactosemia

3. Fridovich-Keil J Bean L He M et al. Epimerase deficiency galactosemia. In: Adam MP Everman DB Mirzaa GM et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington Seattle; 2011 Jan 25 [Updated 2021 Mar 4]. p. 1993–2023.

4. Human UDP-galactose 4′-epimerase (GALE) is required for cell-surface glycome structure and function

5. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

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2. Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review;Orphanet Journal of Rare Diseases;2024-02-14

3. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation;International Journal of Molecular Sciences;2023-03-07