Works matching DE "MEVALONATE kinase deficiency"

Results: 99
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    Untethered proteins found in MKD.

    Published in:
    Medical Journal of Australia, 2017, v. 206, n. 10, p. 420, doi. 10.5694/mja17.n0506
    By:
    • Swannell, Cate
    Publication type:
    Article
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    National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

    Published in:
    Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639
    By:
    • Takayuki Tanaka;
    • Kohei Yoshioka;
    • Ryuta Nishikomori;
    • Hidemasa Sakai;
    • Junya Abe;
    • Yuriko Yamashita;
    • Ryugo Hiramoto;
    • Akira Morimoto;
    • Eiichi Ishii;
    • Hirokazu Arakawa;
    • Utako Kaneko;
    • Yusei Ohshima;
    • Nami Okamoto;
    • Osamu Ohara;
    • Ikue Hata;
    • Yosuke Shigematsu;
    • Tomoki Kawai;
    • Takahiro Yasumi;
    • Toshio Heike
    Publication type:
    Article
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    The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

    Published in:
    Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2795, doi. 10.1002/art.39763
    By:
    • ter Haar, Nienke M.;
    • Jeyaratnam, Jerold;
    • Lachmann, Helen J.;
    • Simon, Anna;
    • Brogan, Paul A.;
    • Doglio, Matteo;
    • Cattalini, Marco;
    • Anton, Jordi;
    • Modesto, Consuelo;
    • Quartier, Pierre;
    • Hoppenreijs, Esther;
    • Martino, Silvana;
    • Insalaco, Antonella;
    • Cantarini, Luca;
    • Lepore, Loredana;
    • Alessio, Maria;
    • Calvo Penades, Inmaculada;
    • Boros, Christina;
    • Consolini, Rita;
    • Rigante, Donato
    Publication type:
    Article
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    Erythema Nodosum and Fevers.

    Published in:
    2015
    By:
    • Bjornstad, Erica C.;
    • James, Kirk;
    • Culton, Donna;
    • Williams, Christine;
    • Wardrop III, Richard M.
    Publication type:
    Case Study
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    The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist

    Published in:
    Arthritis & Rheumatology, 2022, v. 74, n. 7, p. 1102, doi. 10.1002/art.42139
    By:
    • Romano, Micol;
    • Arici, Z. Serap;
    • Piskin, David;
    • Alehashemi, Sara;
    • Aletaha, Daniel;
    • Barron, Karyl;
    • Benseler, Susanne;
    • Berard, Roberta A.;
    • Broderick, Lori;
    • Dedeoglu, Fatma;
    • Diebold, Michelle;
    • Durrant, Karen;
    • Ferguson, Polly;
    • Foell, Dirk;
    • Hausmann, Jonathan S.;
    • Jones, Olcay Y.;
    • Kastner, Daniel;
    • Lachmann, Helen J.;
    • Laxer, Ronald M.;
    • Rivera, Dorelia
    Publication type:
    Article
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    Monogenic Auto-inflammatory Syndromes: A Review of the Literature.

    Published in:
    2016
    By:
    • Azizi, Gholamreza;
    • Azarian, Shahin Khadem;
    • Nazeri, Sepideh;
    • Mosayebian, Ali;
    • Ghiasy, Saleh;
    • Sadri, Ghazal;
    • Mohebbi, Ali;
    • Nazer, Nikoo Hossein Khan;
    • Afraei, Sanaz;
    • Mirshafiey, Abbas;
    • Khadem Azarian, Shahin;
    • Mohebi, Ali;
    • Khan Nazer, Nikoo Hossein
    Publication type:
    journal article
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    An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.

    Published in:
    2019
    By:
    • Federici, Silvia;
    • Vanoni, Federica;
    • Ben-Chetrit, Eldad;
    • Cantarini, Luca;
    • Frenkel, Joost;
    • Goldbach-Mansky, Raphaela;
    • Gul, Ahmet;
    • Hoffman, Hal;
    • Koné-Paut, Isabelle;
    • Kuemmerle-Deschner, Jasmin;
    • Lachmann, Helen J.;
    • Martini, Alberto;
    • Obici, Laura;
    • Ozen, Seza;
    • Simon, Anna;
    • Hofer, Michael;
    • Ruperto, Nicolino;
    • Gattorno, Marco;
    • for Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO);
    • Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO)
    Publication type:
    journal article
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    What's new in autoinflammation?

    Published in:
    Pediatric Nephrology, 2019, v. 34, n. 12, p. 2449, doi. 10.1007/s00467-018-4155-4
    By:
    • Ozen, Seza
    Publication type:
    Article
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    International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.

    Published in:
    2017
    By:
    • Ozen, Seza;
    • Kuemmerle-Deschner, Jasmin B.;
    • Cimaz, Rolando;
    • Livneh, Avi;
    • Quartier, Pierre;
    • Kone-Paut, Isabelle;
    • Zeft, Andrew;
    • Spalding, Steve;
    • Gul, Ahmet;
    • Hentgen, Veronique;
    • Savic, Sinisa;
    • Foeldvari, Ivan;
    • Frenkel, Joost;
    • Cantarini, Luca;
    • Patel, Dony;
    • Weiss, Jeffrey;
    • Marinsek, Nina;
    • Degun, Ravi;
    • Lomax, Kathleen G.;
    • Lachmann, Helen J.
    Publication type:
    journal article
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    Putative modifier genes in mevalonate kinase deficiency.

    Published in:
    Molecular Medicine Reports, 2016, v. 13, n. 4, p. 3181, doi. 10.3892/mmr.2016.4918
    By:
    • MARCUZZI, ANNALISA;
    • VOZZI, DIEGO;
    • GIRARDELLI, MARTINA;
    • TRICARICO, PAOLA MAURA;
    • KNOWLES, ALESSANDRA;
    • CROVELLA, SERGIO;
    • VUCH, JOSEF;
    • TOMMASINI, ALBERTO;
    • PISCIANZ, ELISA;
    • BIANCO, ANNA MONICA
    Publication type:
    Article