Works matching DE "FAMILIAL hypophosphatemia"


Results: 149
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    Familial Hyperphosphatemic Tumoral Calcinosis.

    Published in:
    International Journal of Surgical Pathology, 1995, v. 3, n. 2, p. 111, doi. 10.1177/106689699510030205
    By:
    • Satti, Mohamed B.;
    • Al-Dakheel, Mohamed;
    • McGuinness, Frank E.;
    • Al-Shohaib, Saad
    Publication type:
    Article
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    Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.

    Published in:
    Nephrology Dialysis Transplantation, 2015, v. 30, n. 4, p. 636, doi. 10.1093/ndt/gfu374
    By:
    • Sikora, Przemysław;
    • Zaniew, Marcin;
    • Haisch, Lea;
    • Pulcer, Barbara;
    • Szczepańska, Maria;
    • Moczulska, Anna;
    • Rogowska-Kalisz, Anna;
    • Bieniaś, Beata;
    • Tkaczyk, Marcin;
    • Ostalska-Nowicka, Danuta;
    • Zachwieja, Katarzyna;
    • Hyla-Klekot, Lidia;
    • Schlingmann, Karl Peter;
    • Konrad, Martin
    Publication type:
    Article
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    DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

    Published in:
    Nature Genetics, 2006, v. 38, n. 11, p. 1248, doi. 10.1038/ng1868
    By:
    • Lorenz-Depiereux, Bettina;
    • Bastepe, Murat;
    • Benet-Pagès, Anna;
    • Amyere, Mustapha;
    • Wagenstaller, Janine;
    • Müller-Barth, Ursula;
    • Badenhoop, Klaus;
    • Kaiser, Stephanie M.;
    • Rittmaster, Roger S.;
    • Shlossberg, Alan H.;
    • Olivares, José L.;
    • Loris, César;
    • Ramos, Feliciano J.;
    • Glorieux, Francis;
    • Vikkula, Miikka;
    • Jüppner, Harald;
    • Strom, Tim M.
    Publication type:
    Article
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