Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 3

Results: 25
    1

    Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 480, doi. 10.1002/jimd.12094
    By:
    • Cade, William Todd;
    • Bohnert, Kathryn L.;
    • Peterson, Linda R.;
    • Patterson, Bruce W.;
    • Bittel, Adam J.;
    • Okunade, Adewole L.;
    • de las Fuentes, Lisa;
    • Steger‐May, Karen;
    • Bashir, Adil;
    • Schweitzer, George G.;
    • Chacko, Shaji K.;
    • Wanders, Ronald J.;
    • Pacak, Christina A.;
    • Byrne, Barry J.;
    • Reeds, Dominic N.
    Publication type:
    Article
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    Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 534, doi. 10.1002/jimd.12080
    By:
    • Schiffmann, Raphael;
    • Goker‐Alpan, Ozlem;
    • Holida, Myrl;
    • Giraldo, Pilar;
    • Barisoni, Laura;
    • Colvin, Robert B.;
    • Jennette, Charles J.;
    • Maegawa, Gustavo;
    • Boyadjiev, Simeon A.;
    • Gonzalez, Derlis;
    • Nicholls, Kathy;
    • Tuffaha, Ahmad;
    • Atta, Mohamed G.;
    • Rup, Bonita;
    • Charney, Martha R.;
    • Paz, Alona;
    • Szlaifer, Mali;
    • Alon, Sari;
    • Brill‐Almon, Einat;
    • Chertkoff, Raul
    Publication type:
    Article
    7
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    Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 424, doi. 10.1002/jimd.12085
    By:
    • Van Hove, Johan L. K.;
    • Freehauf, Cynthia L.;
    • Ficicioglu, Can;
    • Pena, Loren D. M.;
    • Moreau, Kerrie L.;
    • Henthorn, Thomas K.;
    • Christians, Uwe;
    • Jiang, Hua;
    • Cowan, Tina M.;
    • Young, Sarah P.;
    • Hite, Michelle;
    • Friederich, Marisa W.;
    • Stabler, Sally P.;
    • Spector, Elaine B.;
    • Kronquist, Kathryn E.;
    • Thomas, Janet A.;
    • Emmett, Peggy;
    • Harrington, Mary J.;
    • Pyle, Laura;
    • Creadon‐Swindell, Geralyn
    Publication type:
    Article
    9

    Response to Letter to the editor.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 396, doi. 10.1002/jimd.12077
    By:
    • Gillingham, Melanie B.;
    • Heitner, Stephen B.;
    • Lasarev, Michael R.;
    • Harding, Cary O.;
    • Vockley, Jerry
    Publication type:
    Article
    10

    Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 414, doi. 10.1002/jimd.12075
    By:
    • Bleeker, Jeannette C.;
    • Kok, Irene L.;
    • Ferdinandusse, Sacha;
    • van der Pol, W. Ludo;
    • Cuppen, Inge;
    • Bosch, Annet M.;
    • Langeveld, Mirjam;
    • Derks, Terry G. J.;
    • Williams, Monique;
    • de Vries, Maaike;
    • Mulder, Margot F.;
    • Gozalbo, Estela R.;
    • de Sain‐van der Velden, Monique G. M.;
    • Rennings, Alexander J.;
    • Schielen, Peter J. C. I.;
    • Dekkers, Eugenie;
    • Houtkooper, Riekelt H.;
    • Waterham, Hans R.;
    • Pras‐Raves, Mia L.;
    • Wanders, Ronald J. A.
    Publication type:
    Article
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    Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 553, doi. 10.1002/jimd.12055
    By:
    • Vals, Mari‐Anne;
    • Ashikov, Angel;
    • Ilves, Pilvi;
    • Loorits, Dagmar;
    • Zeng, Qiang;
    • Barone, Rita;
    • Huijben, Karin;
    • Sykut‐Cegielska, Jolanta;
    • Diogo, Luísa;
    • Elias, Abdallah F.;
    • Greenwood, Robert S.;
    • Grunewald, Stephanie;
    • van Hasselt, Peter M.;
    • van de Kamp, Jiddeke M.;
    • Mancini, Grazia;
    • Okninska, Agnieszka;
    • Pajusalu, Sander;
    • Rudd, Pauline M.;
    • Rustad, Cecilie F.;
    • Salvarinova, Ramona
    Publication type:
    Article
    19

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. N.PAG, doi. 10.1002/jimd.12002
    Publication type:
    Article
    20

    Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 451, doi. 10.1002/jimd.12054
    By:
    • Kuiper, Anouk;
    • Grünewald, Stephanie;
    • Murphy, Elaine;
    • Coenen, Maraike A.;
    • Eggink, Hendriekje;
    • Zutt, Rodi;
    • Rubio‐Gozalbo, Maria E.;
    • Bosch, Annet M.;
    • Williams, Monique;
    • Derks, Terry G. J.;
    • Lachmann, Robin H. L.;
    • Brouwers, Martijn C. G. J.;
    • Janssen, Mirian C. H.;
    • Tijssen, Marina A.;
    • de Koning, Tom J.
    Publication type:
    Article
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    Growth impairment in individuals with citrin deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 501, doi. 10.1002/jimd.12051
    By:
    • Numakura, Chikahiko;
    • Tamiya, Gen;
    • Ueki, Masao;
    • Okada, Tomoo;
    • Maisawa, Shun‐ichi;
    • Kojima‐Ishii, Kanako;
    • Murakami, Jun;
    • Horikawa, Reiko;
    • Tokuhara, Daisuke;
    • Ito, Koichi;
    • Adachi, Masanori;
    • Abiko, Takahiro;
    • Mitsui, Tetsuo;
    • Hayasaka, Kiyoshi
    Publication type:
    Article