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Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes

Autor: C. Serratrice, Sébastien Rivière, Isabelle Durieu, Jean-Marc Ziza, M. Gatfosse, Z. Amoura, T. Sené, Nadia Belmatoug, C. Douillard, K. Mazodier, O. Lidove, R. Froissart, G. Besson, Abdellatif Tazi, Pascal Cathébras, C. Goizet, Marie T. Vanier, Christian Lavigne

Publikováno v: La Revue de Médecine Interne. 38:291-299

Resume Introduction Le deficit en sphingomyelinase acide est une maladie de surcharge lysosomale autosomique recessive allant d’une forme neuro-viscerale severe de l’enfant, la maladie de Niemann-Pick A, a une forme chronique viscerale evoluant j

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::64d479e86f4464fc53182a57c77329b6
https://doi.org/10.1016/j.revmed.2016.10.387

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Concomitant association of giant cell arteritis and malignancy: a multicenter retrospective case-control study

Publikováno v: Clinical rheumatology. 38(5)

Some studies suggest that there is an increased risk of malignancies in giant cell arteritis (GCA). We aimed to describe the clinical characteristics and outcomes of GCA patients with concomitant malignancy and compare them to a GCA control group. Pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e205e648f83cfe906d88ce1ab2d157e6
https://pubmed.ncbi.nlm.nih.gov/30617596

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Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)

Autor: K. Mazodier, Alain Fouilhoux, Brigitte Chabrol, Laurent François, Delphine Lamireau, Nadia Belmatoug, François Feillet, S. Dubois, Pierre Broué, Claire Douillard, Manuel Schiff, François Maillot, Fanny Mochel, P. Jacquin, Dries Dobbelaere, A. Perrier, François Labarthe

Publikováno v: Archives de Pédiatrie
Archives de Pédiatrie, Elsevier, 2018, 25 (5), pp.344-349. ⟨10.1016/j.arcped.2018.05.009⟩
Archives de Pédiatrie, 2018, 25 (5), pp.344-349. ⟨10.1016/j.arcped.2018.05.009⟩

International audience; Inherited metabolic diseases (IMD) form a heterogeneous group of genetic disorders that surface primarily during childhood and result in significant morbidity and mortality. A prevalence of 1 in 2500-5000 live births is often

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b1e416804f1edba612f4449ee757eba
https://hal.archives-ouvertes.fr/hal-02335629

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AB0588 Concomitant association of giant cell arteritis and malignancy: a multicenter retrospective case-control study

Autor: Maxime Samson, Matthieu Groh, J-E Kahn, Olivier Espitia, Claire Blanchard-Delaunay, A. Dumont, Albertine Aouba, V. Grobost, K Mazodier, Boris Bienvenu, Samuel Deshayes, T. Le Gallou, Karim Sacre, H. De Boysson, R Mourot Cottet, N. Chanson, A Dartevel, Mathilde Versini, Sébastien Humbert

Publikováno v: Abstracts Accepted for Publication.

Background Giant cell arteritis (GCA) is a large-vessel vasculitis affecting elderly people, and most frequently women (sex-ratio of 2.3). Some studies suggest an increased risk of malignancies in GCA. Objectives We aimed to describe the clinical, pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a465901dd04e581b915303bfb435fad1
https://doi.org/10.1136/annrheumdis-2017-eular.1291

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[Chronic lymphoid leukemia and renal complication: Report on 10 cases from Marseille over 16 years]

Autor: R, Vial, L, Daniel, M, Devos, B, Bouchacourt, G, Cazajous, H, Sichez, K, Mazodier, M, Lankester, P, Gobert, J, Seguier, L, Swiader, M, Sallée, N, Jourde-Chiche, J-R, Harlé

Publikováno v: La Revue de medecine interne. 39(8)

Chronic lymphoid leukemia (CLL) is a hematological malignant disease, associated with a clonal B cell proliferation. The incidence is 4400 new cases per year in France. The prevalence increases with age with a median age at diagnostic of 65 years. Re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bdf58095be25f5cc52c53fd506429985
https://pubmed.ncbi.nlm.nih.gov/29891261

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[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]

Autor: O, Lidove, N, Belmatoug, R, Froissart, C, Lavigne, I, Durieu, K, Mazodier, C, Serratrice, C, Douillard, C, Goizet, P, Cathebras, G, Besson, Z, Amoura, A, Tazi, M, Gatfossé, S, Rivière, T, Sené, M T, Vanier, J-M, Ziza

Publikováno v: La Revue de medecine interne. 38(5)

Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f1073af3a3ae9b893e3aa7762514833f
https://pubmed.ncbi.nlm.nih.gov/27884455

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