Search Results - "Serratrice, C"

Sex-specific association between vitamin D deficiency and COVID-19 mortality in older patients by Hars, M., Mendes, A., Serratrice, C., Herrmann, F.R., Gold, G., Graf, C., Zekry, D., Trombetti, A.

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neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG) by Chérin, P, Rose, C, de Roux-Serratrice, C, Tardy, D, Dobbelaere, D, Grosbois, B, Hachulla, E, Jaussaud, R, Javier, R.-M, Noël, E, Clerson, P, Hartmann, A

“…Background Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1),…”
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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease by Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

“…Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a…”
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Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD) by Lidove, O, Kaminsky, P, Hachulla, E, Leguy-Seguin, V, Lavigne, C, Marie, I, Maillot, F, Serratrice, C, Masseau, A, Chérin, P, Cabane, J, Noel, E

“…Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD…”
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Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists by Deriaz, S, Serratrice, C, Lidove, O, Noël, E, Masseau, A, Lorcerie, B, Jaussaud, R, Marie, I, Lavigne, C, Cabane, J, Kaminsky, P, Chérin, P, Maillot, F

“…Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage…”
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Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases by Lidove, O, Belmatoug, N, Froissart, R, Lavigne, C, Durieu, I, Mazodier, K, Serratrice, C, Douillard, C, Goizet, C, Cathebras, P, Besson, G, Amoura, Z, Tazi, A, Gatfossé, M, Rivière, S, Sené, T, Vanier, M T, Ziza, J-M

“…Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick…”
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Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG) by Javier, R.-M., Hachulla, E., Rose, C., Gressin, V., Chérin, P., Noël, E., de Roux-Serratrice, C., Dobbelaere, D., Hartmann, A., Jaussaud, R., Clerson, P., Grosbois, B., Roux, C.

“…Summary Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little…”
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Multidimensional analysis of clinical symptoms in patients with Fabry's disease by Kaminsky, P, Noel, E, Jaussaud, R, Leguy-Seguin, V, Hachulla, E, Zenone, T, Lavigne, C, Marie, I, Maillot, F, Masseau, A, Serratrice, C, Lidove, O

“…Fabry's disease is an X-linked inherited lysosomal storage disorder caused by the deficient activity of alpha-galactosidase A. The interrelationships between…”
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Simultaneous occurrence of diffuse Takayasu's arteritis and severe disseminated tuberculosis by Serratrice, J, Benyamine, A, Vidal, V, Talet, H Bensahla, Amri, A Ben, Ené, N, Serratrice, C de Roux, Weiller, P J

“…Links between Takayasu's arteritis (TA) and tuberculosis are discussed in the literature. We report the case of a Caucasian woman who was first seen for a…”
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Urticarial vasculitis revealing relapsing polychondritis by Serratrice, J., de Roux-Serratrice, C., Ené, N., Granel, B., Disdier, P., Weiller, P.J.

“…We report a case of hypocomplementemic urticarial vasculitis heralding a relapsing polychondritis in a 63-year-old woman. The patient, who had suffered in the…”
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Interference of dapsone in HBA1c monitoring of a diabetic patient with polychondritis by SERRATRICE, J, GRANEL, B, SWIADER, L, DISDIER, P, DE ROUX-SERRATRICE, C, RACCAH, D, WEILLER, P. J

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Sarcoidosis preceding chronic myelomonocytic leukemia. Report of two cases by Serratrice, J, Granel, B, Swiader, L, Disdier, P, Weiller-Merli, C, Lepidi, H, de Roux-Serratrice, C, Andrac-Meyer, L, Weiller, P J

“…We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic…”
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Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study by Herrick, Ariane L, Peytrignet, Sebastien, Lunt, Mark, Pan, Xiaoyan, Hesselstrand, Roger, Mouthon, Luc, Silman, Alan J, Dinsdale, Graham, Brown, Edith, Czirják, László, Distler, Jörg H W, Distler, Oliver, Fligelstone, Kim, Gregory, William J, Ochiel, Rachel, Vonk, Madelon C, Ancuţa, Codrina, Ong, Voon H, Farge, Dominique, Hudson, Marie, Matucci-Cerinic, Marco, Balbir-Gurman, Alexandra, Midtvedt, Øyvind, Jobanputra, Paresh, Jordan, Alison C, Stevens, Wendy, Moinzadeh, Pia, Hall, Frances C, Agard, Christian, Anderson, Marina E, Diot, Elisabeth, Madhok, Rajan, Akil, Mohammed, Buch, Maya H, Chung, Lorinda, Damjanov, Nemanja S, Gunawardena, Harsha, Lanyon, Peter, Ahmad, Yasmeen, Chakravarty, Kuntal, Jacobsen, Søren, MacGregor, Alexander J, McHugh, Neil, Müller-Ladner, Ulf, Riemekasten, Gabriela, Becker, Michael, Roddy, Janet, Carreira, Patricia E, Fauchais, Anne Laure, Hachulla, Eric, Hamilton, Jennifer, İnanç, Murat, McLaren, John S, van Laar, Jacob M, Pathare, Sanjay, Proudman, Susanna M, Rudin, Anna, Sahhar, Joanne, Coppere, Brigitte, Serratrice, Christine, Sheeran, Tom, Veale, Douglas J, Grange, Claire, Trad, Georges-Selim, Denton, Christopher P

“…Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse…”
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Accuracy of C-reactive protein, procalcitonin, serum amyloid A and neopterin for low-dose CT-scan confirmed pneumonia in elderly patients: A prospective cohort study by Prendki, Virginie, Malézieux-Picard, Astrid, Azurmendi, Leire, Sanchez, Jean-Charles, Vuilleumier, Nicolas, Carballo, Sebastian, Roux, Xavier, Reny, Jean-Luc, Zekry, Dina, Stirnemann, Jérôme, Garin, Nicolas, Adrish, Muhammad

“…Objective The diagnosis of pneumonia based on semiology and chest X-rays is frequently inaccurate, particularly in elderly patients. Older (C-reactive protein…”
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Result of the survey on orphan disorders by the internal medicine--lysosomal diseases group by Chérin, P, Adoué, D, Hachulla, E, Jaussaud, R, Kaminsky, P, Lavigne, C, Lidove, O, Lorcerie, B, Magy-Bertrand, N, Maillot, F, Marie, I, Masseau, A, Noel, E, Serratrice, C, Cabane, J

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A case of polymyositis with anti-histidyl-t-RNA synthetase (Jo-1) antibody syndrome following extensive vinyl chloride exposure by Serratrice, J, Granel, B, Pache, X, Disdier, P, De Roux-Serratrice, C, Pellissier, J F, Weiller, P J

“…Occupational exposure to vinyl chloride monomers is known to induce Raynaud's phenomenon, periportal fibrosis, liver angiosarcoma and scleroderma-like…”
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Pinguecula and Sjögren's syndrome: two cases by de Roux-Serratrice, C, Conrath, J, Serratrice, J, Granel, B, Disdier, P, Weiller, P-J

“…A pinguecula is a small, raised conjunctival nodule at the temporal or nasal limbus classically associated with conjunctival microtrauma from exposure to…”
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Survenue simultanée d’une artérite de Takayasu multifocale et d’une tuberculose sévère by Serratrice, J., Benyamine, A., Vidal, V., Talet, H. Bensahla, Amri, A. Ben, Ené, N., Serratrice, C. de Roux, Weiller, P.J.

“…Les rapports entre maladie de Takayasu et tuberculose sont discutés dans la littérature. Une patiente caucasienne est hospitalisée une première fois pour…”
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Long-term outcome of AIDS-associated cryptococcosis in the era of combination antiretroviral therapy by LORTHOLARY, Olivier, POIZAT, Gwendoline, ZELLER, Valérie, NEUVILLE, Ségolène, BOIBIEUX, André, ALVAREZ, Muriel, DELLAMONICA, Pierre, BOTTEREL, Francoise, DROMER, Francoise, CHENE, Geneviève

“…Immune restoration following combination antiretroviral therapy (cART) questions the maintenance of prophylaxis among HIV-infected patients with…”
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Un radiologue attentionné by Granel, B., Serratrice, J., de Roux- Serratrice, C., Bartoli, J.M., Vidal, V., Berthet, B., Ene, N., Rodriguez, F., Belmecheri, N.F., Disdier, P., Weiller, P.J.

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