Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 6

Results: 21
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    Congenital disorders of glycosylation with defective fucosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
    By:
    • Hüllen, Andreas;
    • Falkenstein, Kristina;
    • Weigel, Corina;
    • Huidekoper, Hidde;
    • Naumann‐Bartsch, Nora;
    • Spenger, Johannes;
    • Feichtinger, René G.;
    • Schaefers, Jacqueline;
    • Frenz, Stephanie;
    • Kotlarz, Daniel;
    • Momen, Tooba;
    • Khoshnevisan, Razieh;
    • Riedhammer, Korbinian M.;
    • Santer, René;
    • Herget, Theresia;
    • Rennings, Alexander;
    • Lefeber, Dirk J.;
    • Mayr, Johannes A.;
    • Thiel, Christian;
    • Wortmann, Saskia B.
    Publication type:
    Article
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    A diagnostic confidence scheme for CLN3 disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1453, doi. 10.1002/jimd.12429
    By:
    • Masten, Margaux C.;
    • Corre, Camille;
    • Paciorkowski, Alex R.;
    • Vierhile, Amy;
    • Adams, Heather R.;
    • Vermilion, Jennifer;
    • Zimmerman, Grace A.;
    • Augustine, Erika F.;
    • Mink, Jonathan W.
    Publication type:
    Article
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    Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
    By:
    • Mengel, Eugen;
    • Patterson, Marc C.;
    • Da Riol, Rosalia M.;
    • Del Toro, Mireia;
    • Deodato, Federica;
    • Gautschi, Matthias;
    • Grunewald, Stephanie;
    • Grønborg, Sabine;
    • Harmatz, Paul;
    • Héron, Bénédicte;
    • Maier, Esther M.;
    • Roubertie, Agathe;
    • Santra, Saikat;
    • Tylki‐Szymanska, Anna;
    • Day, Simon;
    • Andreasen, Anne Katrine;
    • Geist, Marie Aavang;
    • Havnsøe Torp Petersen, Nikolaj;
    • Ingemann, Linda;
    • Hansen, Thomas
    Publication type:
    Article
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    Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1393, doi. 10.1002/jimd.12434
    By:
    • Reda, Ahmed;
    • Veys, Koenraad;
    • Kadam, Prashant;
    • Taranta, Anna;
    • Rega, Laura Rita;
    • Goffredo, Bianca M.;
    • Camps, Chelsea;
    • Besouw, Martine;
    • Cyr, Daniel;
    • Albersen, Maarten;
    • Spiessens, Carl;
    • de Wever, Liesbeth;
    • Hamer, Robert;
    • Janssen, Mirian C.H.;
    • D'Hauwers, Kathleen;
    • Wetzels, Alex;
    • Monnens, Leo;
    • van den Heuvel, Lambertus;
    • Goossens, Ellen;
    • Levtchenko, Elena
    Publication type:
    Article
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    Corrigendum.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1507, doi. 10.1002/jimd.12420
    Publication type:
    Article
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    Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
    By:
    • Keller, Mareike;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Manti, Filippo;
    • Julia Palacios, Natalia Alexandra;
    • Friedman, Jennifer;
    • Yıldız, Yılmaz;
    • Koht, Jeanette Aimee;
    • Wong, Suet‐Na;
    • Zafeiriou, Dimitrios I.;
    • López‐Laso, Eduardo;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Jeltsch, Kathrin;
    • Serrano‐Lomelin, Jesus;
    • Garbade, Sven F.;
    • Opladen, Thomas;
    • Goez, Helly;
    • Burlina, Alberto;
    • Cortès‐Saladelafont, Elisenda
    Publication type:
    Article
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    Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1353, doi. 10.1002/jimd.12413
    By:
    • Aitkenhead, Lynne;
    • Krishna, Gauri;
    • Ellerton, Charlotte;
    • Moinuddin, Md;
    • Matcham, Jessica;
    • Shiel, Lisha;
    • Hossain, Shasoty;
    • Kiffin, Marianne;
    • Foley, Jennifer;
    • Skeath, Rachel;
    • Cleary, Maureen;
    • Lachmann, Robin;
    • Murphy, Elaine
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1, doi. 10.1002/jimd.12261
    Publication type:
    Article