Works matching IS 01418955 AND DT 2019 AND VI 42

Results: 127
    1

    Editorial.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1041, doi. 10.1002/jimd.12179
    By:
    • Häberle, Johannes;
    • Thöny, Beat
    Publication type:
    Article
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    Chronic liver involvement in urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144
    By:
    • Ranucci, Giusy;
    • Rigoldi, Miriam;
    • Cotugno, Giovanna;
    • Bernabei, Silvia Maria;
    • Liguori, Alessandra;
    • Gasperini, Serena;
    • Goffredo, Bianca Maria;
    • Martinelli, Diego;
    • Monti, Lidia;
    • Francalanci, Paola;
    • Candusso, Manila;
    • Parini, Rossella;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100
    By:
    • Häberle, Johannes;
    • Burlina, Alberto;
    • Chakrapani, Anupam;
    • Dixon, Marjorie;
    • Karall, Daniela;
    • Lindner, Martin;
    • Mandel, Hanna;
    • Martinelli, Diego;
    • Pintos‐Morell, Guillem;
    • Santer, René;
    • Skouma, Anastasia;
    • Servais, Aude;
    • Tal, Galit;
    • Rubio, Vicente;
    • Huemer, Martina;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Hepatic glutamine synthetase augmentation enhances ammonia detoxification.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1128, doi. 10.1002/jimd.12070
    By:
    • Soria, Leandro R.;
    • Nitzahn, Matthew;
    • De Angelis, Angela;
    • Khoja, Suhail;
    • Attanasio, Sergio;
    • Annunziata, Patrizia;
    • Palmer, Donna J.;
    • Ng, Philip;
    • Lipshutz, Gerald S.;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
    10

    Comprehensive characterization of ureagenesis in the spf<sup>ash</sup> mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1064, doi. 10.1002/jimd.12068
    By:
    • Allegri, Gabriella;
    • Deplazes, Sereina;
    • Rimann, Nicole;
    • Causton, Benjamin;
    • Scherer, Tanja;
    • Leff, Jonathan W.;
    • Diez‐Fernandez, Carmen;
    • Klimovskaia, Anna;
    • Fingerhut, Ralph;
    • Krijt, Jakub;
    • Kožich, Viktor;
    • Nuoffer, Jean‐Marc;
    • Grisch‐Chan, Hiu M.;
    • Thöny, Beat;
    • Häberle, Johannes
    Publication type:
    Article
    11

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. N.PAG, doi. 10.1002/jimd.12005
    Publication type:
    Article
    12

    Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1162, doi. 10.1002/jimd.12066
    By:
    • Molema, Femke;
    • Gleich, Florian;
    • Burgard, Peter;
    • Ploeg, Ans T.;
    • Summar, Marshall L.;
    • Chapman, Kimberly A.;
    • Barić, Ivo;
    • Lund, Allan M.;
    • Kölker, Stefan;
    • Williams, Monique;
    • Hörster, F.;
    • Jelsig, A.M.;
    • Lonlay, P.;
    • Wijburg, F.A.;
    • Bosch, A.;
    • Freisinger, P.;
    • Posset, R.;
    • Augoustides‐Savvopoulou, P.;
    • Avram, P.;
    • Deleanu, C.
    Publication type:
    Article
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    A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1054, doi. 10.1002/jimd.12067
    By:
    • Srinivasan, Raghuraman C.;
    • Zabulica, Mihaela;
    • Hammarstedt, Christina;
    • Wu, Tingting;
    • Gramignoli, Roberto;
    • Kannisto, Kristina;
    • Ellis, Ewa;
    • Karadagi, Ahmad;
    • Fingerhut, Ralph;
    • Allegri, Gabriella;
    • Rüfenacht, Véronique;
    • Thöny, Beat;
    • Häberle, Johannes;
    • Nuoffer, Jean‐Marc;
    • Strom, Stephen C.
    Publication type:
    Article
    17

    Abstracts.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, p. 1, doi. 10.1002/jimd.12153
    Publication type:
    Article
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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
    25
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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
    31

    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
    50

    B Vitamins: Small molecules, big effects.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 579, doi. 10.1002/jimd.12127
    By:
    • Rahman, Shamima;
    • Baumgartner, Matthias
    Publication type:
    Article