Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 5

Results: 32
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    Erratum.

    Published in:
    2019
    Publication type:
    Correction Notice
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    Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 918, doi. 10.1002/jimd.12142
    By:
    • Tsygankova, Polina G.;
    • Itkis, Yulia S.;
    • Krylova, Tatiana D.;
    • Kurkina, Marina V.;
    • Bychkov, Igor O.;
    • Ilyushkina, Aleksandra A.;
    • Zabnenkova, Viktoria V.;
    • Mikhaylova, Svetlana V.;
    • Pechatnikova, Natalia L.;
    • Sheremet, Natalia L.;
    • Zakharova, Ekaterina Y.
    Publication type:
    Article
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    Analysis of the Qatari R336C cystathionine β‐synthase protein in mice.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 831, doi. 10.1002/jimd.12140
    By:
    • Gupta, Sapna;
    • Gallego‐Villar, Lorena;
    • Wang, Liqun;
    • Lee, Hyung‐Ok;
    • Nasrallah, Gheyath;
    • Al‐Dewik, Nader;
    • Häberle, Johannes;
    • Thöny, Beat;
    • Blom, Henk J.;
    • Ben‐Omran, Tawfeg;
    • Kruger, Warren D.
    Publication type:
    Article
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    Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 809, doi. 10.1002/jimd.12135
    By:
    • Knerr, Ina;
    • Colombo, Roberto;
    • Urquhart, Jill;
    • Morais, Ana;
    • Merinero, Begona;
    • Oyarzabal, Alfonso;
    • Pérez, Belén;
    • Jones, Simon A.;
    • Perveen, Rahat;
    • Preece, Mary A.;
    • Rogers, Yvonne;
    • Treacy, Eileen P.;
    • Mayne, Philip;
    • Zampino, Giuseppe;
    • MacKinnon, Sabrina;
    • Wassmer, Evangeline;
    • Yue, Wyatt W.;
    • Robinson, Ian;
    • Rodríguez‐Pombo, Pilar;
    • Olpin, Simon E.
    Publication type:
    Article
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    Management of bone disease in cystinosis: Statement from an international conference.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1019, doi. 10.1002/jimd.12134
    By:
    • Hohenfellner, Katharina;
    • Rauch, Frank;
    • Ariceta, Gema;
    • Awan, Atif;
    • Bacchetta, Justine;
    • Bergmann, Carsten;
    • Bechtold, Susanne;
    • Cassidy, Noelle;
    • Deschenes, Geroges;
    • Elenberg, Ewa;
    • Gahl, William A.;
    • Greil, Oliver;
    • Harms, Erik;
    • Herzig, Nadine;
    • Hoppe, Bernd;
    • Koeppl, Christian;
    • Lewis, Malcolm A.;
    • Levtchenko, Elena;
    • Nesterova, Galina;
    • Santos, Fernando
    Publication type:
    Article
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    Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 818, doi. 10.1002/jimd.12099
    By:
    • Al‐Dewik, Nader;
    • Ali, Alaa;
    • Mahmoud, Yassmin;
    • Shahbeck, Noora;
    • Ali, Rehab;
    • Mahmoud, Laila;
    • Al‐Mureikhi, Mariam;
    • Al‐Mesaifri, Fatma;
    • Musa, Sara;
    • El‐Akouri, Karen;
    • Almulla, Mariam;
    • Al Saadi, Reem;
    • Nasrallah, Gheyath K.;
    • Samara, Muthanna;
    • Abdoh, Ghassan;
    • Rifai, Hilal Al;
    • Häberle, Johannes;
    • Thöny, Beat;
    • Kruger, Warren;
    • Blom, Henk J.
    Publication type:
    Article
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    Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 839, doi. 10.1002/jimd.12105
    By:
    • Segal, Joanna;
    • Mülleder, Michael;
    • Krüger, Antje;
    • Adler, Thure;
    • Scholze‐Wittler, Manuela;
    • Becker, Lore;
    • Calzada‐Wack, Julia;
    • Garrett, Lillian;
    • Hölter, Sabine M.;
    • Rathkolb, Birgit;
    • Rozman, Jan;
    • Racz, Ildiko;
    • Fischer, Ralf;
    • Busch, Dirk H.;
    • Neff, Frauke;
    • Klingenspor, Martin;
    • Klopstock, Thomas;
    • Grüning, Nana‐Maria;
    • Michel, Steve;
    • Lukaszewska‐McGreal, Beata
    Publication type:
    Article
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    A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 890, doi. 10.1002/jimd.12102
    By:
    • Jager, Emmalie A.;
    • Kuijpers, Myrthe M.;
    • Bosch, Annet M.;
    • Mulder, Margot F.;
    • Gozalbo, Estela R.;
    • Visser, Gepke;
    • Vries, Maaike;
    • Williams, Monique;
    • Waterham, Hans R.;
    • Spronsen, Francjan J.;
    • Schielen, Peter C. J. I.;
    • Derks, Terry G. J.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. N.PAG, doi. 10.1002/jimd.12004
    Publication type:
    Article