Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 3

Results: 26
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    CORRIGENDUM.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 645, doi. 10.1002/jimd.12230
    Publication type:
    Article
    3

    Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 586, doi. 10.1002/jimd.12210
    By:
    • Donida, Bruna;
    • Raabe, Marco;
    • Tauffner, Bárbara;
    • Farias, Marcelo A.;
    • Machado, Andryele Z.;
    • Timm, Fernanda;
    • Kessler, Rejane G.;
    • Hammerschmidt, Tatiane G.;
    • Reinhardt, Luiza S.;
    • Brito, Verônica B.;
    • Portugal, Rodrigo V.;
    • Bernardi, Andressa;
    • Frozza, Rudimar;
    • Moura, Dinara J.;
    • Giugliani, Roberto;
    • Poletto, Fernanda;
    • Vargas, Carmen R.
    Publication type:
    Article
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    The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
    By:
    • Welsink‐Karssies, Mendy M.;
    • Harskamp, Dewi;
    • Ferdinandusse, Sacha;
    • Hollak, Carla E. M.;
    • Huidekoper, Hidde H.;
    • Janssen, Mirian C. H.;
    • Kemper, E. Marleen;
    • Langendonk, Janneke G.;
    • Rubio‐Gozalbo, M. Estela;
    • Vries, Maaike C.;
    • Wijburg, Frits A.;
    • Schierbeek, Henk;
    • Bosch, Annet M.
    Publication type:
    Article
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    A galactose‐1‐phosphate uridylyltransferase‐null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue‐specific and longitudinal differences in galactose metabolism.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 518, doi. 10.1002/jimd.12205
    By:
    • Rasmussen, Shauna A.;
    • Daenzer, Jennifer M. I.;
    • MacWilliams, Jessica A.;
    • Head, S. Taylor;
    • Williams, Martine B.;
    • Geurts, Aron M.;
    • Schroeder, Jason P.;
    • Weinshenker, David;
    • Fridovich‐Keil, Judith L.
    Publication type:
    Article
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    Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 611, doi. 10.1002/jimd.12200
    By:
    • Boogert, Marjolein A.W.;
    • Crunelle, Cleo L.;
    • Ali, Lubna;
    • Larsen, Lars E.;
    • Kuil, Sacha D.;
    • Levels, Johannes H.M.;
    • Schimmel, Alinda W.M.;
    • Konstantopoulou, Vassiliki;
    • Guerin, Maryse;
    • Kuivenhoven, Jan Albert;
    • Dallinga‐Thie, Geesje M.;
    • Stroes, Erik S.G.;
    • Lefeber, Dirk J.;
    • Holleboom, Adriaan G.
    Publication type:
    Article
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    Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
    By:
    • Haijes, Hanneke A.;
    • Molema, Femke;
    • Langeveld, Mirjam;
    • Janssen, Mirian C.;
    • Bosch, Annet M.;
    • Spronsen, Francjan;
    • Mulder, Margot F.;
    • Verhoeven‐Duif, Nanda M.;
    • Jans, Judith J.M.;
    • Ploeg, Ans T.;
    • Wagenmakers, Margreet A.;
    • Rubio‐Gozalbo, M. Estela;
    • Brouwers, Martijn C. G. J.;
    • Vries, Maaike C.;
    • Langendonk, Janneke G.;
    • Williams, Monique;
    • Hasselt, Peter M.
    Publication type:
    Article
    18

    A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 409, doi. 10.1002/jimd.12183
    By:
    • Kang, Lulu;
    • Liu, Yupeng;
    • Shen, Ming;
    • Liu, Yi;
    • He, Ruxuan;
    • Song, Jinqing;
    • Jin, Ying;
    • Li, Mengqiu;
    • Zhang, Yao;
    • Dong, Hui;
    • Liu, Xueqin;
    • Yan, Hui;
    • Qin, Jiong;
    • Zheng, Hong;
    • Chen, Yongxing;
    • Li, Dongxiao;
    • Wei, Haiyan;
    • Zhang, Huifeng;
    • Sun, Liying;
    • Zhu, Zhijun
    Publication type:
    Article
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    Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 574, doi. 10.1002/jimd.12191
    By:
    • Colaco, Alexandria;
    • Kaya, Ecem;
    • Adriaenssens, Elias;
    • Davis, Lianne C.;
    • Zampieri, Stefania;
    • Fernández‐Suárez, María E.;
    • Tan, Chong Y.;
    • Deegan, Patrick B.;
    • Porter, Forbes D.;
    • Galione, Antony;
    • Bembi, Bruno;
    • Dardis, Andrea;
    • Platt, Frances M.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 1, doi. 10.1002/jimd.12116
    Publication type:
    Article