Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 1

Results: 21
    1

    Index of Authors.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 221, doi. 10.1007/s10545-018-0234-8
    Publication type:
    Article
    2

    Oral Presentations.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 37, doi. 10.1007/s10545-018-0233-9
    Publication type:
    Article
    3

    Oral Presentations.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 1, doi. 10.1007/s10545-018-0232-x
    Publication type:
    Article
    4

    The curse of idiopathic.

    Published in:
    2018
    By:
    • O’Brien, Kevin J.;
    • Gahl, William A.;
    • Gochuico, Bernadette R.
    Publication type:
    Letter
    5

    Role of protein carbonylation in diabetes.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 29, doi. 10.1007/s10545-017-0104-9
    By:
    • Hecker, Markus;
    • Wagner, Andreas H.
    Publication type:
    Article
    6
    7
    8

    Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 49, doi. 10.1007/s10545-017-0013-y
    By:
    • Bloom, Kaitlyn;
    • Mohsen, Al-Walid;
    • Karunanidhi, Anuradha;
    • El Demellawy, Dina;
    • Reyes-Múgica, Miguel;
    • Wang, Yudong;
    • Ghaloul-Gonzalez, Lina;
    • Otsubo, Chikara;
    • Tobita, Kimi;
    • Muzumdar, Radhika;
    • Gong, Zhenwei;
    • Tas, Emir;
    • Basu, Shrabani;
    • Chen, Jie;
    • Bennett, Michael;
    • Hoppel, Charles;
    • Vockley, Jerry
    Publication type:
    Article
    9
    10
    11

    Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 129, doi. 10.1007/s10545-017-0079-6
    By:
    • Kuster, Alice;
    • Arnoux, Jean-Baptiste;
    • Barth, Magalie;
    • Lamireau, Delphine;
    • Houcinat, Nada;
    • Goizet, Cyril;
    • Doray, Bérénice;
    • Gobin, Stéphanie;
    • Schiff, Manuel;
    • Cano, Aline;
    • Amsallem, Daniel;
    • Barnerias, Christine;
    • Chaumette, Boris;
    • Plaze, Marion;
    • Slama, Abdelhamid;
    • Ioos, Christine;
    • Desguerre, Isabelle;
    • Lebre, Anne-Sophie;
    • de Lonlay, Pascale;
    • Christa, Laurence
    Publication type:
    Article
    12

    Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

    Published in:
    2018
    By:
    • Karaa, Amel;
    • Rahman, Shamima;
    • Lombès, Anne;
    • Yu-Wai-Man, Patrick;
    • Sheikh, Muniza K.;
    • Alai-Hansen, Sherita;
    • Cohen, Bruce H.;
    • Dimmock, David;
    • Emrick, Lisa;
    • Falk, Marni J.;
    • McCormack, Shana;
    • Mirsky, David;
    • Moore, Tony;
    • Parikh, Sumit;
    • Shoffner, John;
    • Taivassalo, Tanja;
    • Tarnopolsky, Mark;
    • Tein, Ingrid;
    • Odenkirchen, Joanne C.;
    • Goldstein, Amy
    Publication type:
    Erratum
    13

    Isolated sulfite oxidase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 101, doi. 10.1007/s10545-017-0089-4
    By:
    • Claerhout, Helena;
    • Witters, Peter;
    • Régal, Luc;
    • Jansen, Katrien;
    • Van Hoestenberghe, Marie-Rose;
    • Breckpot, Jeroen;
    • Vermeersch, Pieter
    Publication type:
    Article
    14
    15
    16

    Isolated aortic root dilation in homocystinuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 109, doi. 10.1007/s10545-017-0094-7
    By:
    • Lorenzini, Massimiliano;
    • Guha, Nishan;
    • Davison, James E.;
    • Pitcher, Alex;
    • Pandya, Bejal;
    • Kemp, Helena;
    • Lachmann, Robin;
    • Elliott, Perry M.;
    • Murphy, Elaine
    Publication type:
    Article
    17
    18
    19

    Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4
    By:
    • Meyburg, Jochen;
    • Opladen, Thomas;
    • Spiekerkötter, Ute;
    • Schlune, Andrea;
    • Schenk, Jens-Peter;
    • Schmidt, Jan;
    • Weitz, Jürgen;
    • Okun, Jürgen;
    • Bürger, Friederike;
    • Omran, Tawfeg Ben;
    • Abdoh, Ghassan;
    • Al Rifai, Hilal;
    • Monavari, Ahmad;
    • Konstantopoulou, Vassiliki;
    • Kölker, Stefan;
    • Yudkoff, Marc;
    • Hoffmann, Georg F.
    Publication type:
    Article
    20
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