Works matching IS 01418955 AND DT 2023 AND VI 46

Results: 113
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    Risk and potential of ChatGPT in scientific publishing.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1005, doi. 10.1002/jimd.12666
    By:
    • Peters, Verena;
    • Baumgartner, Matthias;
    • Froese, Sean;
    • Morava, Eva;
    • Patterson, Marc;
    • Zschocke, Johannes;
    • Rahman, Shamima
    Publication type:
    Article
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    Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
    By:
    • Duan, Ruizhi;
    • Marafi, Dana;
    • Xia, Zhi‐Jie;
    • Ng, Bobby G.;
    • Maroofian, Reza;
    • Sumya, Farhana Taher;
    • Saad, Ahmed K.;
    • Du, Haowei;
    • Fatih, Jawid M.;
    • Hunter, Jill V.;
    • Elbendary, Hasnaa M.;
    • Baig, Shahid M.;
    • Abdullah, Uzma;
    • Ali, Zafar;
    • Efthymiou, Stephanie;
    • Murphy, David;
    • Mitani, Tadahiro;
    • Withers, Marjorie A.;
    • Jhangiani, Shalini N.;
    • Coban‐Akdemir, Zeynep
    Publication type:
    Article
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    Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
    By:
    • del Caño‐Ochoa, Francisco;
    • Ng, Bobby G.;
    • Rubio‐del‐Campo, Antonio;
    • Mahajan, Sonal;
    • Wilson, Matthew P.;
    • Vilar, Marçal;
    • Rymen, Daisy;
    • Sánchez‐Pintos, Paula;
    • Kenny, Joanna;
    • Ley Martos, Myriam;
    • Campos, Teresa;
    • Wortmann, Saskia B.;
    • Freeze, Hudson H.;
    • Ramón‐Maiques, Santiago
    Publication type:
    Article
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    Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1089, doi. 10.1002/jimd.12662
    By:
    • Skvorak, Kristen;
    • Liu, Joyce;
    • Kruse, Nikki;
    • Mehmood, Roasa;
    • Das, Subhamoy;
    • Jenne, Stephan;
    • Chng, Chinping;
    • Lao, U. Loi;
    • Duan, Da;
    • Asfaha, Jonathan;
    • Du, Faye;
    • Teadt, Leann;
    • Sero, Antionette;
    • Ching, Charlene;
    • Riggins, James;
    • Pope, Lianne;
    • Yan, Ping;
    • Mashiana, Harminder;
    • Ismaili, Moulay Hicham Alaoui;
    • McCluskie, Kerryn
    Publication type:
    Article
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    Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
    By:
    • Maier, Esther M.;
    • Mütze, Ulrike;
    • Janzen, Nils;
    • Steuerwald, Ulrike;
    • Nennstiel, Uta;
    • Odenwald, Birgit;
    • Schuhmann, Elfriede;
    • Lotz‐Havla, Amelie S.;
    • Weiss, Katharina J.;
    • Hammersen, Johanna;
    • Weigel, Corina;
    • Thimm, Eva;
    • Grünert, Sarah C.;
    • Hennermann, Julia B.;
    • Freisinger, Peter;
    • Krämer, Johannes;
    • Das, Anibh M.;
    • Illsinger, Sabine;
    • Gramer, Gwendolyn;
    • Fang‐Hoffmann, Junmin
    Publication type:
    Article
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    Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1104, doi. 10.1002/jimd.12669
    By:
    • van Vliet, K.;
    • Dijkstra, A. M.;
    • Bouva, M. J.;
    • van der Krogt, J.;
    • Bijsterveld, K.;
    • van der Sluijs, F.;
    • de Sain‐van der Velden, M. G.;
    • Koop, K.;
    • Rossi, A.;
    • Thomas, J. A.;
    • Patera, C. A.;
    • Kiewiet, M. B. G.;
    • Waters, P. J.;
    • Cyr, D.;
    • Boelen, A.;
    • van Spronsen, F. J.;
    • Heiner‐Fokkema, M. R.
    Publication type:
    Article
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    Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1063, doi. 10.1002/jimd.12653
    By:
    • Mütze, Ulrike;
    • Henze, Lucy;
    • Schröter, Julian;
    • Gleich, Florian;
    • Lindner, Martin;
    • Grünert, Sarah C.;
    • Spiekerkoetter, Ute;
    • Santer, René;
    • Thimm, Eva;
    • Ensenauer, Regina;
    • Weigel, Johannes;
    • Beblo, Skadi;
    • Arélin, Maria;
    • Hennermann, Julia B.;
    • Marquardt, Iris;
    • Freisinger, Peter;
    • Krämer, Johannes;
    • Dieckmann, Andrea;
    • Weinhold, Natalie;
    • Schiergens, Katharina A.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1, doi. 10.1002/jimd.12520
    Publication type:
    Article
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    The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648
    By:
    • Greco, Benedetta;
    • Caviglia, Stefania;
    • Martinelli, Diego;
    • Capitello, Teresa Grimaldi;
    • Liccardo, Daniela;
    • De Nictolis, Francesca;
    • Pietrobattista, Andrea;
    • Huemer, Martina;
    • Piga, Simone;
    • Olivieri, Giorgia;
    • Spagnoletti, Gionata;
    • Spada, Marco;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Clinical presentation of 13 children with alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 916, doi. 10.1002/jimd.12647
    By:
    • Kujawa, Mariusz J.;
    • Świętoń, Dominik;
    • Wierzba, Jolanta;
    • Grzywińska, Małgorzata;
    • Budziło, Oskar;
    • Limanówka, Monika;
    • Pierzynowska, Karolina;
    • Gaffke, Lidia;
    • Grabowski, Łukasz;
    • Cyske, Zuzanna;
    • Rintz, Estera;
    • Rąbalski, Łukasz;
    • Kosiński, Maciej;
    • Węgrzyn, Grzegorz;
    • Mański, Arkadiusz;
    • Anikiej‐Wiczenbach, Paulina;
    • Ranganath, Lakshminarayan;
    • Piskunowicz, Maciej
    Publication type:
    Article
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    Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 943, doi. 10.1002/jimd.12640
    By:
    • Vockley, Jerry;
    • Burton, Barbara K.;
    • Berry, Gerard;
    • Longo, Nicola;
    • Phillips, John;
    • Sanchez‐Valle, Amarilis;
    • Chapman, Kimberly A.;
    • Tanpaiboon, Pranoot;
    • Grunewald, Stephanie;
    • Murphy, Elaine;
    • Lu, Xiaoxiao;
    • Rahman, Syeda;
    • Ray, Kathryn;
    • Reineking, Bridget;
    • Pisani, Laura;
    • Ramirez, Antonio Nino
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 1, doi. 10.1002/jimd.12519
    Publication type:
    Article
    41

    Abstracts.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, p. 1, doi. 10.1002/jimd.12668
    Publication type:
    Article
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    Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636
    By:
    • Manoli, Irini;
    • Gebremariam, Abigael;
    • McCoy, Samantha;
    • Pass, Alexandra R.;
    • Gagné, Jack;
    • Hall, Camryn;
    • Ferry, Susan;
    • Van Ryzin, Carol;
    • Sloan, Jennifer L.;
    • Sacchetti, Elisa;
    • Catesini, Giulio;
    • Rizzo, Cristiano;
    • Martinelli, Diego;
    • Spada, Marco;
    • Dionisi‐Vici, Carlo;
    • Venditti, Charles P.
    Publication type:
    Article
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