Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 2


Results: 10
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    Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 162, doi. 10.1002/jmd2.12270
    By:
    • Kubaski, Francyne;
    • Herbst, Zackary M.;
    • Burin, Maira Graeff;
    • Michelin‐Tirelli, Kristiane;
    • Trapp, Franciele B.;
    • Gus, Rejane;
    • Netto, Alice B. O.;
    • Brusius‐Facchin, Ana Carolina;
    • Leistner‐Segal, Sandra;
    • Sanseverino, Maria Teresa;
    • Souza, Carolina Moura Fischinger de;
    • Wilke, Matheus V. M. B.;
    • Oliveira, Thiago;
    • Magalhães, Jose A. A.;
    • Giugliani, Roberto
    Publication type:
    Article
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    Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
    By:
    • Martín‐Rivada, Álvaro;
    • Palomino Pérez, Laura;
    • Ruiz‐Sala, Pedro;
    • Navarrete, Rosa;
    • Cambra Conejero, Ana;
    • Quijada Fraile, Pilar;
    • Moráis López, Ana;
    • Belanger‐Quintana, Amaya;
    • Martín‐Hernández, Elena;
    • Bellusci, Marcello;
    • Cañedo Villaroya, Elvira;
    • Chumillas Calzada, Silvia;
    • García Silva, María Teresa;
    • Bergua Martínez, Ana;
    • Stanescu, Sinziana;
    • Martínez‐Pardo Casanova, Mercedes;
    • Ruano, Miguel L. F.;
    • Ugarte, Magdalena;
    • Pérez, Belén;
    • Pedrón‐Giner, Consuelo
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 107, doi. 10.1002/jmd2.12227
    Publication type:
    Article