Works about HYPOPHOSPHATASIA

Results: 236
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    P03.07: Hypophosphatasia.

    Published in:
    Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 175, doi. 10.1002/uog.16521
    By:
    • Witters, I.;
    • Konings, M.;
    • Coumans, A.;
    • Sallevelt, S.;
    • Robben, S.;
    • Pieters, M.;
    • Die, C.
    Publication type:
    Article
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    Intracranial Hypertension in Children.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 12, p. 1562, doi. 10.1177/0883073815574332
    By:
    • Masri, Amira;
    • Jaafar, Amani;
    • Noman, Rasha;
    • Gharaibeh, Almutez;
    • Ababneh, Osama H.
    Publication type:
    Article
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    Pediatric hypophosphatasia: avoid diagnosis missteps!

    Published in:
    Journal of Bone & Mineral Research, 2024, v. 39, n. 6, p. 655, doi. 10.1093/jbmr/zjae098
    By:
    • Whyte, Michael P;
    • McAlister, William H;
    • Mack, Karen E;
    • Mumm, Steven;
    • Madson, Katherine L
    Publication type:
    Article
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    Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

    Published in:
    Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 4, p. 598, doi. 10.1007/s00774-020-01193-z
    By:
    • İnci, Aslı;
    • Ergin, Filiz Başak Cengiz;
    • Yüce, Burcu Topcu;
    • Çiftçi, Bahattin;
    • Demir, Ercan;
    • Buyan, Necla;
    • Okur, İlyas;
    • Biberoğlu, Gürsel;
    • Öktem, Rıdvan Murat;
    • Tümer, Leyla;
    • Ezgü, Fatih Süheyl
    Publication type:
    Article
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    Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.

    Published in:
    Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2023.1320516
    By:
    • Martınez-Heredia, Luis;
    • Muñoz-Torres, Manuel;
    • Sanabria-de la Torre, Raquel;
    • Jiménez-Ortas, Ángela;
    • Andújar-Vera, Francisco;
    • González-Cejudo, Trinidad;
    • Contreras-Bolıvar, Victoria;
    • González-Salvatierra, Sheila;
    • Marıa Gómez-Vida, José;
    • Garcıa-Fontana, Cristina;
    • Garcıa-Fontana, Beatriz
    Publication type:
    Article
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    Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

    Published in:
    Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1205977
    By:
    • Cinque, Luigia;
    • Pugliese, Flavia;
    • Salcuni, Antonio Stefano;
    • Trombetta, Domenico;
    • Battista, Claudia;
    • Biagini, Tommaso;
    • Augello, Bartolomeo;
    • Nardella, Grazia;
    • Conti, Francesco;
    • Corbetta, Sabrina;
    • Fischetto, Rita;
    • Foiadelli, Thomas;
    • Gaudio, Agostino;
    • Giannini, Cosimo;
    • Grosso, Enrico;
    • Guabello, Gregorio;
    • Massuras, Stefania;
    • Palermo, Andrea;
    • Politano, Luisa;
    • Pigliaru, Francesca
    Publication type:
    Article
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    Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.

    Published in:
    Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1138599
    By:
    • Dahir, Kathryn M.;
    • Kishnani, Priya S.;
    • Ángel Martos-Moreno, Gabriel;
    • Linglart, Agnès;
    • Petryk, Anna;
    • Rockman-Greenberg, Cheryl;
    • Martel, Samantha E.;
    • Ozono, Keiichi;
    • Högler, Wolfgang;
    • Seefried, Lothar
    Publication type:
    Article
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