Works matching DE "ALPHA-galactosidase"


Results: 84
    1

    Strategies for the production of difficult-to-express full-length eukaryotic proteins using microbial cell factories: production of human alpha-galactosidase A.

    Published in:
    Applied Microbiology & Biotechnology, 2015, v. 99, n. 14, p. 5863, doi. 10.1007/s00253-014-6328-9
    By:
    • Unzueta, Ugutz;
    • Vázquez, Felicitas;
    • Accardi, Giulia;
    • Mendoza, Rosa;
    • Toledo-Rubio, Verónica;
    • Giuliani, Maria;
    • Sannino, Filomena;
    • Parrilli, Ermenegilda;
    • Abasolo, Ibane;
    • Schwartz, Simo;
    • Tutino, Maria;
    • Villaverde, Antonio;
    • Corchero, José;
    • Ferrer-Miralles, Neus
    Publication type:
    Article
    2
    3
    4

    Fabry disease, a complex pathology not easy to diagnose.

    Published in:
    Cardiogenetics, 2015, v. 5, n. 1, p. 17, doi. 10.4081/cardiogenetics.2015.5612
    By:
    • Colomba, Paolo;
    • Scalia, Simone;
    • Cammarata, Giuseppe;
    • Zizzo, Carmela;
    • Francofonte, Daniele;
    • Savica, Vincenzo;
    • Alessandro, Riccardo;
    • Iemolo, Francesco;
    • Duro, Giovanni
    Publication type:
    Article
    5
    6
    7

    Colonic Involvement in Fabry Disease.

    Published in:
    International Journal of Surgical Pathology, 2011, v. 19, n. 6, p. 777, doi. 10.1177/1066896911428737
    By:
    • Deniz, Kemal;
    • Yurci, Alper;
    • Yağbasan, Ahmet;
    • Tekelioğlu, Fatoş;
    • Gürsoy, Şebnem;
    • Güven, Kadri
    Publication type:
    Article
    8
    9
    10

    New mutations in the GLA gene in Brazilian families with Fabry disease.

    Published in:
    Journal of Human Genetics, 2012, v. 57, n. 6, p. 347, doi. 10.1038/jhg.2012.32
    By:
    • Turaça, Lauro Thiago;
    • Pessoa, Juliana Gilbert;
    • Motta, Fabiana Louise;
    • Muñoz Rojas, Maria Verônica;
    • Müller, Karen Barbosa;
    • Lourenço, Charles Marques;
    • Junior Marques, Wilson;
    • D'Almeida, Vania;
    • Martins, Ana Maria;
    • Pesquero, João Bosco
    Publication type:
    Article
    11
    12
    13
    14
    15
    16

    Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

    Published in:
    Clinical Genetics, 2012, v. 81, n. 3, p. 224, doi. 10.1111/j.1399-0004.2011.01689.x
    By:
    • Ferri, L;
    • Guido, C;
    • la Marca, G;
    • Malvagia, S;
    • Cavicchi, C;
    • Fiumara, A;
    • Barone, R;
    • Parini, R;
    • Antuzzi, D;
    • Feliciani, C;
    • Zampetti, A;
    • Manna, R;
    • Giglio, S;
    • Della Valle, CM;
    • Wu, X;
    • Valenzano, KJ;
    • Benjamin, ER;
    • Donati, MA;
    • Guerrini, R;
    • Genuardi, M
    Publication type:
    Article
    17
    18
    19

    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
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39

    Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

    Published in:
    2016
    By:
    • Lenders, Malte;
    • Weidemann, Frank;
    • Kurschat, Christine;
    • Canaan-Kühl, Sima;
    • Duning, Thomas;
    • Stypmann, Jörg;
    • Schmitz, Boris;
    • Reiermann, Stefanie;
    • Krämer, Johannes;
    • Blaschke, Daniela;
    • Wanner, Christoph;
    • Brand, Stefan-Martin;
    • Brand, Eva
    Publication type:
    journal article
    40

    Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

    Published in:
    2016
    By:
    • Masayoshi Oikawa;
    • Nobuo Sakamoto;
    • Atsushi Kobayashi;
    • Satoshi Suzuki;
    • Akiomi Yoshihisa;
    • Takayoshi Yamaki;
    • Kazuhiko Nakazato;
    • Hitoshi Suzuki;
    • Shu-ichi Saitoh;
    • Yuichirou Kiko;
    • Hajime Nakano;
    • Takeharu Hayashi;
    • Akinori Kimura;
    • Yasuchika Takeishi;
    • Oikawa, Masayoshi;
    • Sakamoto, Nobuo;
    • Kobayashi, Atsushi;
    • Suzuki, Satoshi;
    • Yoshihisa, Akiomi;
    • Yamaki, Takayoshi
    Publication type:
    journal article
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50