Works matching DE "SULFATASES"

Results: 292
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    Erratum.

    Published in:
    Behavior Genetics, 2000, v. 30, n. 3, p. 249
    Publication type:
    Article
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    Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
    By:
    • Sabourdy, Frédérique;
    • Mourey, Lionel;
    • Trionnaire, Emmanuelle Le;
    • Bednarek, Nathalie;
    • Caillaud, Catherine;
    • Yves Chaix;
    • Delrue, Marie-Ange;
    • Dusser, Anne;
    • Froissart, Roseline;
    • Garnotel, Roselyne;
    • Guffon, Nathalie;
    • Megarbane, André;
    • de Baulny, Hélène Ogier;
    • Pédespan, Jean-Michel;
    • Pichard, Samia;
    • Valayannopoulos, Vassili;
    • Verloes, Alain;
    • Levade, Thierry
    Publication type:
    Article
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    Recessive XLI: high prevalence of neurological disorders.

    Published in:
    British Journal of Dermatology, 2018, v. 179, n. 4, p. e180, doi. 10.1111/bjd.17182
    By:
    • Rodrigo‐Nicolás, B.;
    • Bueno‐Martínez, E.;
    • Martín‐Santiago, A.;
    • Cañueto, J.;
    • Vicente, A.;
    • Torrelo, A.;
    • Noguera‐Morel, L.;
    • Duat‐Rodríguez, A.;
    • Jorge‐Finnigan, C.;
    • Palacios‐Álvarez, I.;
    • García‐Hernández, J.L.;
    • Sebaratnam, D.F.;
    • González‐Sarmiento, R.;
    • Hernández‐Martín, A.
    Publication type:
    Article
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    Evidence of the high prevalence of neurological disorders in nonsyndromic X‐linked recessive ichthyosis: a retrospective case series.

    Published in:
    British Journal of Dermatology, 2018, v. 179, n. 4, p. 933, doi. 10.1111/bjd.16826
    By:
    • Rodrigo‐Nicolás, B.;
    • Torrelo, A.;
    • Noguera‐Morel, L.;
    • Jorge‐Finnigan, C.;
    • Palacios‐Álvarez, I.;
    • Sebaratnam, D.F.;
    • Hernández‐Martín, A.;
    • Bueno‐Martínez, E.;
    • García‐Hernández, J.L.;
    • González‐Sarmiento, R.;
    • Martín‐Santiago, A.;
    • Cañueto, J.;
    • Vicente, A.;
    • Duat‐Rodríguez, A.
    Publication type:
    Article
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    Purple Urine Bag Syndrome.

    Published in:
    Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 8, p. 1, doi. 10.7860/JCDR/2015/14736.6304
    By:
    • TARAGANAR ABUBACKER, NAUFAL RIZWAN;
    • THIRUMANILAYUR JAYARAMAN, SENTHIL MANIKANDAN;
    • KANNAN R.;
    • SIVANESAN, MAGESH KUMAR;
    • MATHEW, RENU
    Publication type:
    Article
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