Works matching DE "INBORN errors of metabolism"


Results: 2286
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    Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

    Published in:
    Metabolites (2218-1989), 2025, v. 15, n. 5, p. 308, doi. 10.3390/metabo15050308
    By:
    • Tommolini, Maria Lucia;
    • Cufaro, Maria Concetta;
    • Valentinuzzi, Silvia;
    • Cicalini, Ilaria;
    • Zucchelli, Mirco;
    • Frisco, Alberto;
    • Simonetti, Simonetta;
    • Perrone Donnorso, Michela;
    • Moccia, Sara;
    • Bucci, Ines;
    • Aricò, Maurizio;
    • De Laurenzi, Vincenzo;
    • Federici, Luca;
    • Pieragostino, Damiana;
    • Rossi, Claudia
    Publication type:
    Article
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    The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.

    Published in:
    Osteoporosis International, 2024, v. 35, n. 3, p. 439, doi. 10.1007/s00198-023-06859-8
    By:
    • Brandi, Maria Luisa;
    • Khan, Aliya A.;
    • Rush, Eric T.;
    • Ali, Dalal S.;
    • Al-Alwani, Hatim;
    • Almonaei, Khulod;
    • Alsarraf, Farah;
    • Bacrot, Severine;
    • Dahir, Kathryn M.;
    • Dandurand, Karel;
    • Deal, Chad;
    • Ferrari, Serge Livio;
    • Giusti, Francesca;
    • Guyatt, Gordon;
    • Hatcher, Erin;
    • Ing, Steven W.;
    • Javaid, Muhammad Kassim;
    • Khan, Sarah;
    • Kocijan, Roland;
    • Lewiecki, E. Michael
    Publication type:
    Article
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    Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.

    Published in:
    Osteoporosis International, 2024, v. 35, n. 1, p. 1, doi. 10.1007/s00198-023-06843-2
    By:
    • Rush, Eric;
    • Brandi, Maria Luisa;
    • Khan, Aliya;
    • Ali, Dalal S.;
    • Al-Alwani, Hatim;
    • Almonaei, Khulod;
    • Alsarraf, Farah;
    • Bacrot, Severine;
    • Dahir, Kathryn M.;
    • Dandurand, Karel;
    • Deal, Chad;
    • Ferrari, Serge Livio;
    • Giusti, Francesca;
    • Guyatt, Gordon;
    • Hatcher, Erin;
    • Ing, Steven W.;
    • Javaid, Muhammad Kassim;
    • Khan, Sarah;
    • Kocijan, Roland;
    • Lewiecki, E. Michael
    Publication type:
    Article
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    Neurological symptoms in Hypophosphatasia.

    Published in:
    Osteoporosis International, 2019, v. 30, n. 2, p. 469, doi. 10.1007/s00198-018-4691-6
    By:
    • Colazo, J.M.;
    • Hu, J.R.;
    • Dahir, K.M.;
    • Simmons, J.H.
    Publication type:
    Article
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