Works matching DE "ANGIOKERATOMA corporis diffusum"

Results: 1178
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    Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae095
    By:
    • Klein, Thomas;
    • Grüner, Julia;
    • Breyer, Maximilian;
    • Schlegel, Jan;
    • Schottmann, Nicole Michelle;
    • Hofmann, Lukas;
    • Gauss, Kevin;
    • Mease, Rebecca;
    • Erbacher, Christoph;
    • Finke, Laura;
    • Klein, Alexandra;
    • Klug, Katharina;
    • Karl-Schöller, Franziska;
    • Vignolo, Bettina;
    • Reinhard, Sebastian;
    • Schneider, Tamara;
    • Günther, Katharina;
    • Fink, Julian;
    • Dudek, Jan;
    • Maack, Christoph
    Publication type:
    Article
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    OD REDAKCJI.

    Published in:
    Polski Przegląd Neurologiczny, 2023, v. 19, n. 3, p. V, doi. 10.5603/ppn.97639
    By:
    • Budrewicz, Sławomir
    Publication type:
    Article
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    Cognitive and Psychological Functioning in Fabry Disease.

    Published in:
    Archives of Clinical Neuropsychology, 2014, v. 29, n. 7, p. 642, doi. 10.1093/arclin/acu047
    By:
    • Sigmundsdottir, Linda;
    • Tchan, Michel C.;
    • Knopman, Alex A.;
    • Menzies, Graham C.;
    • Batchelor, Jennifer;
    • Sillence, David O.
    Publication type:
    Article
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    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders.

    Published in:
    Journal of Extracellular Vesicles, 2021, v. 10, n. 5, p. 1, doi. 10.1002/jev2.12058
    By:
    • Seras‐Franzoso, Joaquin;
    • Díaz‐Riascos, Zamira V.;
    • Corchero, José Luis;
    • González, Patricia;
    • García‐Aranda, Natalia;
    • Mandaña, Mònica;
    • Riera, Roger;
    • Boullosa, Ana;
    • Mancilla, Sandra;
    • Grayston, Alba;
    • Moltó‐Abad, Marc;
    • Garcia‐Fruitós, Elena;
    • Mendoza, Rosa;
    • Pintos‐Morell, Guillem;
    • Albertazzi, Lorenzo;
    • Rosell, Anna;
    • Casas, Josefina;
    • Villaverde, Antonio;
    • Schwartz, Simó;
    • Abasolo, Ibane
    Publication type:
    Article
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    The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1666
    By:
    • Germain, Dominique P.;
    • Moiseev, Sergey;
    • Suárez‐Obando, Fernando;
    • Al Ismaili, Faisal;
    • Al Khawaja, Huda;
    • Altarescu, Gheona;
    • Barreto, Fellype C.;
    • Haddoum, Farid;
    • Hadipour, Fatemeh;
    • Maksimova, Irina;
    • Kramis, Mirelle;
    • Nampoothiri, Sheela;
    • Nguyen, Khanh Ngoc;
    • Niu, Dau‐Ming;
    • Politei, Juan;
    • Ro, Long‐Sun;
    • Vu Chi, Dung;
    • Chen, Nan;
    • Kutsev, Sergey
    Publication type:
    Article
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    Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 492, doi. 10.1002/mgg3.389
    By:
    • Germain, Dominique P.;
    • Brand, Eva;
    • Burlina, Alessandro;
    • Cecchi, Franco;
    • Garman, Scott C.;
    • Kempf, Judy;
    • Laney, Dawn A.;
    • Linhart, Aleš;
    • Maródi, László;
    • Nicholls, Kathy;
    • Ortiz, Alberto;
    • Pieruzzi, Federico;
    • Shankar, Suma P.;
    • Waldek, Stephen;
    • Wanner, Christoph;
    • Jovanovic, Ana
    Publication type:
    Article
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    The heart in Fabry's disease.

    Published in:
    Cardiologia Croatica, 2019, v. 14, n. 3/4, p. 64, doi. 10.15836/ccar2019.64
    By:
    • Skorup, Lea;
    • Romić, Ivana Grgić;
    • Šimić, Jelena;
    • Vujičić, Božidar;
    • Rački, Sanjin;
    • Ružić, Alen;
    • Zaputović, Luka;
    • Matana, Ante;
    • Jurjević, Teodora Zaninović
    Publication type:
    Article
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    Fabry disease in children: a federal screening programme in Russia.

    Published in:
    2017
    By:
    • Namazova-Baranova, Leyla;
    • Baranov, Alexander;
    • Pushkov, Aleksander;
    • Savostyanov, Kirill;
    • Namazova-Baranova, Leyla Seymurovna;
    • Baranov, Alexander Alexandrovich;
    • Pushkov, Aleksander Alekseevich;
    • Savostyanov, Kirill Victorovich
    Publication type:
    journal article
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    Newborn screening for Fabry disease in the north-west of Spain.

    Published in:
    2017
    By:
    • Colon, Cristobal;
    • Ortolano, Saida;
    • Melcon-Crespo, Cristina;
    • Alvarez, Jose;
    • Lopez-Suarez, Olalla;
    • Couce, Maria;
    • Fernández-Lorenzo, José;
    • Alvarez, Jose V;
    • Lopez-Suarez, Olalla E;
    • Couce, Maria L;
    • Fernández-Lorenzo, José R
    Publication type:
    journal article
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