Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 1

Results: 30
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    An international classification of inherited metabolic disorders (ICIMD).

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 164, doi. 10.1002/jimd.12348
    By:
    • Ferreira, Carlos R.;
    • Rahman, Shamima;
    • Keller, Markus;
    • Zschocke, Johannes;
    • Abdenur, Jose;
    • Ali, Houda;
    • Artuch, Rafael;
    • Ballabio, Andrea;
    • Barshop, Bruce;
    • Baumgartner, Matthias;
    • Bertini, Enrico Silvio;
    • Blau, Nenad;
    • Carelli, Valerio;
    • Carroll, Christopher;
    • Chinnery, Patrick F.;
    • Christodoulou, John;
    • Cornejo, Veronica;
    • Darin, Niklas;
    • Derks, Terry;
    • Diodato, Daria
    Publication type:
    Article
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    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
    By:
    • Coughlin, Curtis R.;
    • Tseng, Laura A.;
    • Abdenur, Jose E.;
    • Ashmore, Catherine;
    • Boemer, François;
    • Bok, Levinus A.;
    • Boyer, Monica;
    • Buhas, Daniela;
    • Clayton, Peter T.;
    • Das, Anibh;
    • Dekker, Hanka;
    • Evangeliou, Athanasios;
    • Feillet, François;
    • Footitt, Emma J.;
    • Gospe, Sidney M.;
    • Hartmann, Hans;
    • Kara, Majdi;
    • Kristensen, Erle;
    • Lee, Joy;
    • Lilje, Rina
    Publication type:
    Article
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    In Memoriam.

    Published in:
    2021
    By:
    • Van Hove, Johan L. K.;
    • Thomas, Janet A.;
    • McCandless, Shawn E.;
    • Woontner, Michael;
    • Coughlin, Curtis
    Publication type:
    Obituary
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    Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
    By:
    • Bindoff, Laurence A.;
    • Brown, David A.;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Constanza;
    • Mancuso, Michelangelo;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Schirris, Tom J. J.;
    • Varhaug, Kristin N.;
    • De Vries, Maaike C.
    Publication type:
    Article
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    Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 215, doi. 10.1002/jimd.12301
    By:
    • Bösch, Florin;
    • Landolt, Markus A.;
    • Baumgartner, Matthias R.;
    • Zeltner, Nina;
    • Kölker, Stefan;
    • Gleich, Florian;
    • Burlina, Alberto;
    • Cazzorla, Chiara;
    • Packman, Wendy;
    • V. D. Schwartz, Ida;
    • Neto, Eduardo;
    • Ribeiro, Márcia G.;
    • Martinelli, Diego;
    • Olivieri, Giorgia;
    • Huemer, Martina
    Publication type:
    Article
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    Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 240, doi. 10.1002/jimd.12309
    By:
    • Velasco, Kelly;
    • St‐Louis, Johanna L.;
    • Hovland, Henrikke N.;
    • Thompson, Nels;
    • Ottesen, Åsta;
    • Choi, Man Hung;
    • Pedersen, Line;
    • Njølstad, Pål R.;
    • Arnesen, Thomas;
    • Fjeld, Karianne;
    • Aukrust, Ingvild;
    • Myklebust, Line M.;
    • Molven, Anders
    Publication type:
    Article
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    Quantitative retrospective natural history modeling for orphan drug development.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 99, doi. 10.1002/jimd.12304
    By:
    • Garbade, Sven F.;
    • Zielonka, Matthias;
    • Komatsuzaki, Shoko;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Hinderhofer, Katrin;
    • Mountford, William K.;
    • Mengel, Eugen;
    • Sláma, Tomáš;
    • Mechler, Konstantin;
    • Ries, Markus
    Publication type:
    Article
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    Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 226, doi. 10.1002/jimd.12302
    By:
    • Hoogeveen, Irene J.;
    • Boer, Foekje;
    • Boonstra, Willemijn F.;
    • Schaaf, Caroline J.;
    • Steuerwald, Ulrike;
    • Sibeijn‐Kuiper, Anita J.;
    • Vegter, Riemer J. K.;
    • Hoeven, Johannes H.;
    • Heiner‐Fokkema, M. Rebecca;
    • Clarke, Kieran C.;
    • Cox, Pete J.;
    • Derks, Terry G. J.;
    • Jeneson, Jeroen A. L.
    Publication type:
    Article
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    International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 148, doi. 10.1002/jimd.12286
    By:
    • Altassan, Ruqaiah;
    • Radenkovic, Silvia;
    • Edmondson, Andrew C.;
    • Barone, Rita;
    • Brasil, Sandra;
    • Cechova, Anna;
    • Coman, David;
    • Donoghue, Sarah;
    • Falkenstein, Kristina;
    • Ferreira, Vanessa;
    • Ferreira, Carlos;
    • Fiumara, Agata;
    • Francisco, Rita;
    • Freeze, Hudson;
    • Grunewald, Stephanie;
    • Honzik, Tomas;
    • Jaeken, Jaak;
    • Krasnewich, Donna;
    • Lam, Christina;
    • Lee, Joy
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 1, doi. 10.1002/jimd.12256
    Publication type:
    Article
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