Vanessa Leguy-Seguin
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Explore the profile of Vanessa Leguy-Seguin including associated specialties, affiliations and a list of published articles.
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26
Citations
238
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Recent Articles
11.
Le T, Martinent G, Dupuis-Girod S, Parrot A, Contis A, Riviere S, et al.
Orphanet J Rare Dis
. 2022 Jul;
17(1):281.
PMID: 35854330
Background: Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients' daily lives. To date, no scale has been validated to...
12.
Mauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, et al.
J Clin Med
. 2022 Mar;
11(5).
PMID: 35268324
Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by...
13.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, et al.
PLoS One
. 2020 May;
15(5):e0233460.
PMID: 32442237
Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by...
14.
Serratrice C, Cherin P, Lidove O, Noel E, Masseau A, Leguy-Seguin V, et al.
J Hematol
. 2020 Apr;
8(3):121-124.
PMID: 32300455
Background: Gaucher disease is a rare inborn error of lysosomal metabolism, characterized by lysosomal storage of the β-glucosylceramide. Bleedings observed in type-1 Gaucher disease (GD1) are commonly attributed to a...
15.
Nguyen Y, Stirnemann J, Lautredoux F, Cador B, Bengherbia M, Yousfi K, et al.
Int J Mol Sci
. 2020 Feb;
21(4).
PMID: 32069933
Gaucher disease (GD) is a rare lysosomal autosomal-recessive disorder due to deficiency of glucocerebrosidase; polyclonal gammopathy (PG) and/or monoclonal gammopathy (MG) can occur in this disease. We aimed to describe...
16.
Serratrice C, Cox T, Leguy-Seguin V, Morris E, Yousfi K, Monnet O, et al.
J Clin Med
. 2019 Feb;
8(2).
PMID: 30744043
Type 1 Gaucher disease is a rare genetic lysosomal disorder due to acid betaglucosidase deficiency. The main features are thrombocytopenia, anemia, hepatosplenomegaly and complex skeletal disease. Complications include pulmonary hypertension,...
17.
Audia S, Bach B, Samson M, Lakomy D, Bour J, Burlet B, et al.
PLoS One
. 2018 Nov;
13(11):e0207218.
PMID: 30408135
Thrombotic manifestations are a hallmark of many auto-immune diseases (AID), specially of warm autoimmune hemolytic anemia (wAIHA), as 15 to 33% of adults with wAIHA experience venous thromboembolic events (VTE)....
18.
Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, et al.
Orphanet J Rare Dis
. 2018 Aug;
13(1):127.
PMID: 30064518
Background: Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies...
19.
Lorcerie B, Audia S, Samson M, Milliere A, Falvo N, Leguy-Seguin V, et al.
Presse Med
. 2017 Nov;
46(12 Pt 2):e329-e338.
PMID: 29150231
The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and...
20.
Esteve C, Samson M, Guilhem A, Nicolas B, Leguy-Seguin V, Berthier S, et al.
PLoS One
. 2017 Oct;
12(10):e0187296.
PMID: 29084292
Dapsone is recommended as a second line therapy in immune thrombocytopenia (ITP), but is underused because of its potential side effects. The medical charts of 42 ITP patients treated with...