Hasil Pencarian - Hidde H. Huidekoper

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  1. 1
    Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

    Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method oleh Lisa Bleyle, Hidde H. Huidekoper, Frederic M. Vaz, Renu Singh, Robert D. Steiner, Andrea E. DeBarber

    Diterbitkan 2016-06-01
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  2. 2
    A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S]

    A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios[S] oleh Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper

    Diterbitkan 2017-05-01
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  3. 3
    Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

    Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study oleh Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper

    Diterbitkan 2023-05-01
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  4. 4
    Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review

    Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review oleh Imke A. M. Ditters, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Hidde H. Huidekoper, Johanna M. P. van den Hout

    Diterbitkan 2023-09-01
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  5. 5
    Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

    Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity oleh Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom

    Diterbitkan 2021-09-01
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  6. 6
    A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

    A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening oleh Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen

    Diterbitkan 2023-10-01
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