Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 3

Results: 25
    1
    2

    Obituary.

    Published in:
    2021
    Publication type:
    Obituary
    3

    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
    By:
    • Forny, Patrick;
    • Hörster, Friederike;
    • Ballhausen, Diana;
    • Chakrapani, Anupam;
    • Chapman, Kimberly A.;
    • Dionisi‐Vici, Carlo;
    • Dixon, Marjorie;
    • Grünert, Sarah C.;
    • Grunewald, Stephanie;
    • Haliloglu, Goknur;
    • Hochuli, Michel;
    • Honzik, Tomas;
    • Karall, Daniela;
    • Martinelli, Diego;
    • Molema, Femke;
    • Sass, Jörn Oliver;
    • Scholl‐Bürgi, Sabine;
    • Tal, Galit;
    • Williams, Monique;
    • Huemer, Martina
    Publication type:
    Article
    4
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    8

    MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 728, doi. 10.1002/jimd.12356
    By:
    • Mallack, Eric J.;
    • Turk, Bela R.;
    • Yan, Helena;
    • Price, Carrie;
    • Demetres, Michelle;
    • Moser, Ann B.;
    • Becker, Catherine;
    • Hollandsworth, Kim;
    • Adang, Laura;
    • Vanderver, Adeline;
    • Van Haren, Keith;
    • Ruzhnikov, Maura;
    • Kurtzberg, Joanne;
    • Maegawa, Gustavo;
    • Orchard, Paul J.;
    • Lund, Troy C.;
    • Raymond, Gerald V.;
    • Regelmann, Molly;
    • Orsini, Joseph J.;
    • Seeger, Elisa
    Publication type:
    Article
    9
    10
    11

    Bone marrow transplantation into Abcd1‐deficient mice: Distribution of donor derived‐cells and biological characterization of the brain of the recipient mice.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 718, doi. 10.1002/jimd.12346
    By:
    • Morita, Masashi;
    • Kaizawa, Taro;
    • Yoda, Taiki;
    • Oyama, Takuro;
    • Asakura, Reina;
    • Matsumoto, Shun;
    • Nagai, Yoshinori;
    • Watanabe, Yasuharu;
    • Watanabe, Shiro;
    • Kobayashi, Hiroshi;
    • Kawaguchi, Kosuke;
    • Yamamoto, Seiji;
    • Shimozawa, Nobuyuki;
    • So, Takanori;
    • Imanaka, Tsuneo
    Publication type:
    Article
    12
    13
    14
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    16

    Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
    By:
    • Kožich, Viktor;
    • Sokolová, Jitka;
    • Morris, Andrew A. M.;
    • Pavlíková, Markéta;
    • Gleich, Florian;
    • Kölker, Stefan;
    • Krijt, Jakub;
    • Dionisi‐Vici, Carlo;
    • Baumgartner, Matthias R.;
    • Blom, Henk J.;
    • Huemer, Martina;
    • Aldámiz‐Echevarría, Luis;
    • Arantes, Rodrigo Rezende;
    • Arrieta, Francisco;
    • Blasco‐Alonso, Javier;
    • Brouwers, Martijn;
    • Brunner‐Krainz, Michaela;
    • Bueno, María;
    • Peláez, Rosa Burgos;
    • Cano, Aline
    Publication type:
    Article
    17

    Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 639, doi. 10.1002/jimd.12337
    By:
    • O'Reilly, Daniel;
    • Crushell, Ellen;
    • Hughes, Joanne;
    • Ryan, Stephanie;
    • Rogers, Yvonne;
    • Borovickova, Ingrid;
    • Mayne, Philip;
    • Riordan, Michael;
    • Awan, Atif;
    • Carson, Kevin;
    • Hunter, Kim;
    • Lynch, Bryan;
    • Shahwan, Amre;
    • Rüfenacht, Véronique;
    • Häberle, Johannes;
    • Treacy, Eileen P.;
    • Monavari, Ahmad A.;
    • Knerr, Ina
    Publication type:
    Article
    18

    Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
    By:
    • Märtner, E. M. Charlotte;
    • Maier, Esther M.;
    • Mengler, Katharina;
    • Thimm, Eva;
    • Schiergens, Katharina A.;
    • Marquardt, Thorsten;
    • Santer, René;
    • Weinhold, Natalie;
    • Marquardt, Iris;
    • Das, Anibh M.;
    • Freisinger, Peter;
    • Grünert, Sarah C.;
    • Vossbeck, Judith;
    • Steinfeld, Robert;
    • Baumgartner, Matthias R.;
    • Beblo, Skadi;
    • Dieckmann, Andrea;
    • Näke, Andrea;
    • Lindner, Martin;
    • Heringer‐Seifert, Jana
    Publication type:
    Article
    19

    The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 606, doi. 10.1002/jimd.12331
    By:
    • Staretz‐Chacham, Orna;
    • Daas, Suha;
    • Ulanovsky, Igor;
    • Blau, Ayala;
    • Rostami, Nira;
    • Saraf‐Levy, Talya;
    • Abu Salah, Nasser;
    • Anikster, Yair;
    • Banne, Ehud;
    • Dar, Dalit;
    • Dumin, Elena;
    • Fattal‐Valevski, Aviva;
    • Falik‐Zaccai, Tzipora;
    • Hershkovitz, Eli;
    • Josefsberg, Sagi;
    • Khammash, Hatem;
    • Keidar, Rimona;
    • Korman, Stanley H.;
    • Landau, Yuval;
    • Lerman‐Sagie, Tally
    Publication type:
    Article
    20
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    Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
    By:
    • Marelli, Cecilia;
    • Lavigne, Christian;
    • Stepien, Karolina M.;
    • Janssen, Mirian C. H.;
    • Feillet, Francois;
    • Kožich, Viktor;
    • Jesina, Pavel;
    • Schule, Rebecca;
    • Kessler, Christoph;
    • Redonnet‐Vernhet, Isabelle;
    • Regnier, Adeline;
    • Burda, Patricie;
    • Baumgartner, Matthias;
    • Benoist, Jean‐Francois;
    • Huemer, Martina;
    • Mochel, Fanny
    Publication type:
    Article
    23

    Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 554, doi. 10.1002/jimd.12321
    By:
    • Wassenberg, Tessa;
    • Deinum, Jaap;
    • Ittersum, Frans J.;
    • Kamsteeg, Erik‐Jan;
    • Pennings, Maartje;
    • Verbeek, Marcel M.;
    • Wevers, Ron A.;
    • Albada, Mirjam E.;
    • Kema, Ido P.;
    • Versmissen, Jorie;
    • Meiracker, Ton;
    • Lenders, Jacques W.M.;
    • Monnens, Leo;
    • Willemsen, Michèl A.
    Publication type:
    Article
    24
    25

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 1, doi. 10.1002/jimd.12258
    Publication type:
    Article