Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 6

Results: 24
    1

    Toshiyuki Fukao.

    Published in:
    2020
    By:
    • Mitchell, Grant A.;
    • Sasai, Hideo;
    • Bastin, Jean;
    • Sass, Jörn Oliver;
    • Wanders, Ronald JA;
    • Yamaguchi, Seiji
    Publication type:
    Obituary
    2

    N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1370, doi. 10.1002/jimd.12306
    By:
    • Park, Julien H.;
    • Mealer, Robert G.;
    • Elias, Abdallah F.;
    • Hoffmann, Susanne;
    • Grüneberg, Marianne;
    • Biskup, Saskia;
    • Fobker, Manfred;
    • Haven, Jaclyn;
    • Mangels, Ute;
    • Reunert, Janine;
    • Rust, Stephan;
    • Schoof, Jonathan;
    • Schwanke, Corbin;
    • Smoller, Jordan W.;
    • Cummings, Richard D.;
    • Marquardt, Thorsten
    Publication type:
    Article
    3
    4

    Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1298, doi. 10.1002/jimd.12298
    By:
    • Adang, Laura A.;
    • Schlotawa, Lars;
    • Groeschel, Samuel;
    • Kehrer, Christiane;
    • Harzer, Klaus;
    • Staretz‐Chacham, Orna;
    • Silva, Thiago Oliveira;
    • Schwartz, Ida Vanessa D.;
    • Gärtner, Jutta;
    • De Castro, Mauricio;
    • Costin, Carrie;
    • Montgomery, Esperanza Font;
    • Dierks, Thomas;
    • Radhakrishnan, Karthikeyan;
    • Ahrens‐Nicklas, Rebecca C.
    Publication type:
    Article
    5
    6
    7

    A retrospective study of adult patients with noncirrhotic hyperammonemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1165, doi. 10.1002/jimd.12292
    By:
    • Stergachis, Andrew B.;
    • Mogensen, Kris M.;
    • Khoury, Charbel C.;
    • Lin, Alexander P.;
    • Peake, Roy WA.;
    • Baker, Joshua J.;
    • Barkoudah, Ebrahim;
    • Sahai, Inderneel;
    • Sweetser, David A.;
    • Berry, Gerard T.;
    • Krier, Joel B.
    Publication type:
    Article
    8

    Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
    By:
    • Haouari, Walid;
    • Dubail, Johanne;
    • Lounis‐Ouaras, Samra;
    • Prada, Pierre;
    • Bennani, Rizk;
    • Roseau, Charles;
    • Huber, Céline;
    • Afenjar, Alexandra;
    • Colin, Estelle;
    • Vuillaumier‐Barrot, Sandrine;
    • Seta, Nathalie;
    • Foulquier, François;
    • Poüs, Christian;
    • Cormier‐Daire, Valérie;
    • Bruneel, Arnaud
    Publication type:
    Article
    9

    Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
    By:
    • Ng, Bobby G.;
    • Eklund, Erik A.;
    • Shiryaev, Sergey A.;
    • Dong, Yin Y.;
    • Abbott, Mary‐Alice;
    • Asteggiano, Carla;
    • Bamshad, Michael J.;
    • Barr, Eileen;
    • Bernstein, Jonathan A.;
    • Chelakkadan, Shabeed;
    • Christodoulou, John;
    • Chung, Wendy K.;
    • Ciliberto, Michael A.;
    • Cousin, Janice;
    • Gardiner, Fiona;
    • Ghosh, Suman;
    • Graf, William D.;
    • Grunewald, Stephanie;
    • Hammond, Katherine;
    • Hauser, Natalie S.
    Publication type:
    Article
    10

    Long term outcome of MPI‐CDG patients on D‐mannose therapy.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1360, doi. 10.1002/jimd.12289
    By:
    • Girard, Muriel;
    • Douillard, Claire;
    • Debray, Dominique;
    • Lacaille, Florence;
    • Schiff, Manuel;
    • Vuillaumier‐Barrot, Sandrine;
    • Dupré, Thierry;
    • Fabre, Monique;
    • Damaj, Lena;
    • Kuster, Alice;
    • Torre, Stéphanie;
    • Mention, Karine;
    • McLin, Valérie;
    • Dobbelaere, Dries;
    • Borgel, Delphine;
    • Bauchard, Eric;
    • Seta, Nathalie;
    • Bruneel, Arnaud;
    • De Lonlay, Pascale
    Publication type:
    Article
    11

    Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
    By:
    • Maines, Evelina;
    • Catesini, Giulio;
    • Boenzi, Sara;
    • Mosca, Antonella;
    • Candusso, Manila;
    • Dello Strologo, Luca;
    • Martinelli, Diego;
    • Maiorana, Arianna;
    • Liguori, Alessandra;
    • Olivieri, Giorgia;
    • Taurisano, Roberta;
    • Piemonte, Fiorella;
    • Rizzo, Cristiano;
    • Spada, Marco;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
    12
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    15

    Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
    By:
    • Johnstone, Devon L.;
    • Nguyen, Thi Tuyet Mai;
    • Zambonin, Jessica;
    • Kernohan, Kristin D.;
    • St‐Denis, Anik;
    • Baratang, Nissan V.;
    • Hartley, Taila;
    • Geraghty, Michael T.;
    • Richer, Julie;
    • Majewski, Jacek;
    • Bareke, Eric;
    • Guerin, Andrea;
    • Pendziwiat, Manuela;
    • Pena, Loren D. M.;
    • Braakman, Hilde M. H.;
    • Gripp, Karen W.;
    • Edmondson, Andrew C.;
    • He, Miao;
    • Spillmann, Rebecca C.;
    • Eklund, Erik A.
    Publication type:
    Article
    16
    17
    18

    Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
    By:
    • Staps, Pippa;
    • Rizzo, William B.;
    • Vaz, Frédéric M.;
    • Bugiani, Marianna;
    • Giera, Martin;
    • Heijs, Bram;
    • Kampen, Antoine H. C.;
    • Pras‐Raves, Mia L.;
    • Breur, Marjolein;
    • Groen, Annemieke;
    • Ferdinandusse, Sacha;
    • Graaf, Marinette;
    • Van Goethem, Gert;
    • Lammens, Martin;
    • Wevers, Ron A.;
    • Willemsen, Michèl A. A. P.
    Publication type:
    Article
    19
    20
    21

    Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
    By:
    • Semplicini, Claudio;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Béhin, Anthony;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Magot, Armelle;
    • Nadaj‐Pakleza, Aleksandra;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Tard, Céline;
    • Zagnoli, Fabien;
    • Hogrel, Jean‐Yves;
    • Hamroun, Dalil;
    • Laforêt, Pascal
    Publication type:
    Article
    22
    23

    Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1382, doi. 10.1002/jimd.12255
    By:
    • Mohamed, Miski;
    • Gardeitchik, Thatjana;
    • Balasubramaniam, Shanti;
    • Guerrero‐Castillo, Sergio;
    • Dalloyaux, Daisy;
    • Kraaij, Sanne;
    • Venselaar, Hanka;
    • Hoischen, Alexander;
    • Urban, Zsolt;
    • Brandt, Ulrich;
    • Al‐Shawi, Raya;
    • Simons, J. Paul;
    • Frison, Michele;
    • Ngu, Lock‐Hock;
    • Callewaert, Bert;
    • Spelbrink, Hans;
    • Kallemeijn, Wouter W.;
    • Aerts, Johannes M. F. G.;
    • Waugh, Mark G.;
    • Morava, Eva
    Publication type:
    Article
    24

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1, doi. 10.1002/jimd.12122
    Publication type:
    Article