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About 128 results

ALLMedicine™ Gray Platelet Syndrome Center

Research & Reviews  49 results

Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibr...
https://doi.org/10.1093/ajcp/aqaa229
American Journal of Clinical Pathology; Tariq H, Perez Botero J et. al.

Feb 16th, 2021 - Gray platelet syndrome (GPS) is a rare platelet storage pool disorder associated with a marked decrease or absence of platelet α-granules and their contents. It is characterized clinically by mild to moderate bleeding; moderate macrothrombocytopen...

Neutrophil specific granule and NETosis defects in gray platelet syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839360
Blood Advances; Aarts CEM, Downes K et. al.

Jan 27th, 2021 - Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of be...

Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryo...
https://doi.org/10.1111/jth.15177
Journal of Thrombosis and Haemostasis : JTH; Pluthero FG, Kahr WHA

Dec 11th, 2020 - Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.|2020|Pluthero FG,Kahr WHA,|genetics,diagnosis,genetics,

Gray platelet syndrome: immunity goes awry.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7582557
Blood Rao AK, Rao DA

Oct 23rd, 2020 - Gray platelet syndrome: immunity goes awry.|2020|Rao AK,Rao DA,|

Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561286
Haematologica Bergemalm D, Ramström S et. al.

Oct 16th, 2020 - In X-linked thrombocytopenia with thalassemia (XLTT; OMIM 314050), caused by the mutation p.R216Q in exon 4 of the GATA1 gene, male hemizygous patients display macrothrombocytopenia, bleeding diathesis and a β-thalassemia trait. Herein, we describ...

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News  2 results

A Case of Chronic Thrombocytopenia in a 17-Year-Old Female
https://www.staging.medscape.com/viewarticle/920128

Abstract and Introduction Abstract Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the ...

A Case of Chronic Thrombocytopenia in a 17-Year-Old Female
https://www.medscape.com/viewarticle/920128

Abstract and Introduction Abstract Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the ...

see more →