Works matching IS 01418955 AND DT 2025 AND VI 48 AND IP 1

Results: 64
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    Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12844
    By:
    • Morris, Andrew A. M.;
    • Sokolová, Jitka;
    • Pavlíková, Markéta;
    • Gleich, Florian;
    • Kölker, Stefan;
    • Dionisi‐Vici, Carlo;
    • Baumgartner, Matthias R.;
    • Hannibal, Luciana;
    • Blom, Henk J.;
    • Huemer, Martina;
    • Kožich, Viktor;
    • Arantes, Rodrigo R.;
    • Blanco, Francisco Arrieta;
    • Baghdasaryan, Anna;
    • Ballhausen, Diana;
    • Blasco‐Alonso, Javier;
    • Brouwers, Martijn;
    • Bueno, María;
    • Burgos, Rosa;
    • Villarroya, Elvira Cañedo
    Publication type:
    Article
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    Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12843
    By:
    • Siri, Barbara;
    • Greco, Benedetta;
    • Martinelli, Diego;
    • Cairoli, Sara;
    • Guarnera, Alessia;
    • Longo, Daniela;
    • Napolitano, Antonio;
    • Parrillo, Chiara;
    • Ravà, Lucilla;
    • Simeoli, Raffaele;
    • Spagnoletti, Gionata;
    • Taurisano, Roberta;
    • Veraldi, Silvio;
    • Pietrobattista, Andrea;
    • Spada, Marco;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Response to Downie et al.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12837
    By:
    • Betzler, Isabel R.;
    • Hempel, Maja;
    • Mütze, Ulrike;
    • Kölker, Stefan;
    • Winkler, Eva;
    • Dikow, Nicola;
    • Garbade, Sven F.;
    • Schaaf, Christian P.;
    • Brennenstuhl, Heiko
    Publication type:
    Article
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    Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12842
    By:
    • Balfoort, Berith M.;
    • Van den Broeck, Filip;
    • Boon, Camiel J. F.;
    • Brouwers, Martijn C. G. J.;
    • Diederen, Roselie M. H.;
    • Dhillon, Preet;
    • Ten Asbroek, Anneloor L.M.A.;
    • Bergen, Arthur A.;
    • Boon, Camiel J.F.;
    • Brands, Marion M.;
    • Buijs, Mark J.N.;
    • Diederen, Roselie M.H.;
    • Ferdinandusse, Sacha;
    • Houtkooper, Riekelt H.;
    • Van Karnebeek, Clara D. M.;
    • Schultink, Patrick;
    • Timmer, Corrie;
    • Vaz, Frédéric M.;
    • Wagenmakers, Margreet A.E.M.;
    • Wanders, Ronald J.A.
    Publication type:
    Article
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    Beyond neuropsychological tests: AI speech analysis in PKU.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12831
    By:
    • Waisbren, Susan E.;
    • Norel, Raquel;
    • Agurto, Carla;
    • Singh, Shifali;
    • Connor, Zoe A.;
    • Ebrahim, Marina G.;
    • Cecchi, Guillermo A.
    Publication type:
    Article
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    Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12829
    By:
    • Tejedor, Juan Ramón;
    • Soriano‐Sexto, Alejandro;
    • Beccari, Leonardo;
    • Castejón‐Fernández, Natalia;
    • Correcher, Patricia;
    • Sainz‐Ledo, Lidia;
    • Alba‐Linares, Juan José;
    • Urdinguio, Rocío G.;
    • Ugarte, Magdalena;
    • Fernández, Agustín F.;
    • Rodríguez‐Pombo, Pilar;
    • Fraga, Mario F.;
    • Pérez, Belén
    Publication type:
    Article
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    Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12826
    By:
    • Holubova, Veronika;
    • Barone, Rita;
    • Grunewald, Stephanie;
    • Tesařová, Markéta;
    • Hansíková, Hana;
    • Augustínová, Jana;
    • Sykut‐Cegielska, Jolanta;
    • De Nictolis, Francesca;
    • Diaz‐Moreno, Unai;
    • Elangovan, Ramyia;
    • Epifani, Florencia;
    • Gasperini, Serena;
    • Jansen, Mirian;
    • Lefeber, Dirk;
    • Maksym‐Gasiorek, Dorota;
    • Diego, Martinelli;
    • Ounap, Katrin;
    • Pettinato, Fabio;
    • Põder, Haide;
    • Rymen, Daisy
    Publication type:
    Article
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    Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12824
    By:
    • Das, Anibh M.;
    • Ballhausen, Diana;
    • Haas, Dorothea;
    • Häberle, Johannes;
    • Hagedorn, Tobias;
    • Janson‐Mutsaerts, Cecilia;
    • Janzen, Nils;
    • Sander, Johannes;
    • Freisinger, Peter;
    • Karall, Daniela;
    • Meyer, Uta;
    • Mönch, Eberhard;
    • Morlot, Susanne;
    • Rosenbaum‐Fabian, Stefanie;
    • Scholl‐Bürgi, Sabine;
    • vom Dahl, Stephan;
    • Weinhold, Natalie;
    • Zeman, Jiri;
    • Lange, Karin
    Publication type:
    Article
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    Imaging readiness in the gene therapy era‐exploring standardized protocols for response assessment.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12828
    By:
    • Biswas, Asthik;
    • Soo, Audrey K. S.;
    • Kurian, Manju A.;
    • Löbel, Ulrike;
    • D'Arco, Felice;
    • Batzios, Spyros;
    • Sudhakar, Sniya;
    • Mankad, Kshitij;
    • Gaur, Pritika;
    • Varga, Patricia;
    • De Vita, Enrico;
    • Cooper, Jessica;
    • Hassell, Jane;
    • Hacohen, Yael;
    • Hemingway, Cheryl;
    • Clark, Christopher A.;
    • Rahman, Shamima;
    • Gissen, Paul;
    • Baruteau, Julien;
    • Broomfield, Alexander
    Publication type:
    Article
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    Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12819
    By:
    • Imbard, Apolline;
    • de Calbiac, Hortense;
    • Le Guillou, Edouard;
    • Laforêt, Pascal;
    • Schiff, Manuel;
    • Brassier, Anaïs;
    • Thevenet, Elise;
    • Pontoizeau, Clément;
    • Lefrère, Bertrand;
    • Ottolenghi, Chris;
    • Lebigot, Elise;
    • Gaignard, Pauline;
    • Gobin, Stéphanie;
    • Acquaviva‐Bourdain, Cécile;
    • Benoist, Jean‐François;
    • Tuchmann‐Durand, Caroline;
    • Legendre, Antoine;
    • de Lonlay, Pascale
    Publication type:
    Article
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    My path to citrin deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12818
    By:
    • Walker, John E.
    Publication type:
    Article
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    Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12815
    By:
    • Stolwijk, Nina N.;
    • Häberle, Johannes;
    • Huidekoper, Hidde H.;
    • Wagenmakers, Margreet A. E. M.;
    • Hollak, Carla E. M.;
    • Bosch, Annet M.;
    • Möslinger, Dorothea;
    • Nassogne, Marie‐Cecile;
    • Vanlander, Arnaud;
    • Witters, Peter;
    • Jesina, Pavel;
    • Zeman, Jiri;
    • Lund, Allan M.;
    • Feillet, François;
    • Gramer, Gwendolyn;
    • Grünert, Sarah C.;
    • Kölker, Stefan;
    • Opladen, Thomas;
    • Thimm, Eva;
    • Ziagaki, Athanasia
    Publication type:
    Article
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    Brain morphometry in hepatic Wilson disease patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12814
    By:
    • Rahimi, Parya;
    • Mareček, Stanislav;
    • Brůha, Radan;
    • Dezortová, Monika;
    • Sojka, Petr;
    • Hájek, Milan;
    • Skowrońska, Marta;
    • Smoliński, Łukasz;
    • Urbánek, Petr;
    • Litwin, Tomasz;
    • Dušek, Petr
    Publication type:
    Article
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    Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long‐term management of patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12809
    By:
    • Lefebvre, Thibaud;
    • Eguether, Thibaut;
    • Thévenot, Etienne;
    • Poli, Antoine;
    • Chu‐Van, Emeline;
    • Krasniqi, Pranvera;
    • Schmitt, Caroline;
    • Talbi, Neila;
    • Nicolas, Gaël;
    • Puy, Hervé;
    • Junot, Christophe;
    • Lamazière, Antonin;
    • Castelli, Florence;
    • Gouya, Laurent;
    • Fenaille, François
    Publication type:
    Article
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    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12805
    By:
    • Neugebauer, Julia;
    • Reinson, Karit;
    • Bellusci, Marcello;
    • Park, Julien H.;
    • Hikmat, Omar;
    • Bertini, Enrico;
    • Schiff, Manuel;
    • Ardissone, Anna;
    • Darin, Niklas;
    • Darling, Alejandra;
    • Diodato, Daria;
    • Diogo, Luisa;
    • Kristensen, Erle;
    • Kieć‐Wilk, Beata;
    • Macário, Maria Carmo;
    • Martinelli, Diego;
    • Messina, Martina;
    • O'Callaghan, Mar;
    • Ortigoza‐Escobar, Juan Darío;
    • Paiva Coelho, Margarida
    Publication type:
    Article
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    The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12801
    By:
    • Gross‐Valle, Candelas;
    • Jacobs, Tessa C.;
    • Dijck‐Brouwer, Janneke D. A.;
    • Lubberts, Janniek;
    • Bakker, Barbara M.;
    • Bakker, Stephan J. L.;
    • van der Veen, Yvonne;
    • Schreuder, Andrea B.;
    • Derks, Terry G. J.;
    • van der Krogt, Jennifer;
    • Groen, Joost;
    • Heiner‐Fokkema, M. Rebecca
    Publication type:
    Article
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    Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12800
    By:
    • Rock, Rachel;
    • Rock, Oded;
    • Daas, Suha;
    • Biton‐Regev, Vered;
    • Sagiv, Nadav;
    • Salah, Nasser Abu;
    • Anikster, Yair;
    • Barel, Ortal;
    • Cohen, Ronen Hady;
    • Dumin, Elena;
    • Fattal‐Valevski, Aviva;
    • Falik‐Zaccai, Tzipora;
    • Herskovitz, Eli;
    • Josefsberg, Sagi;
    • Khammash, Hatem;
    • Kneller, Katya;
    • Korman, Stanley H.;
    • Landau, Yuval E.;
    • Lerman‐Sagie, Tally;
    • Mandel, Hanna
    Publication type:
    Article
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    An update on autophagy disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12798
    By:
    • Dafsari, Hormos Salimi;
    • Martinelli, Diego;
    • Saffari, Afshin;
    • Ebrahimi‐Fakhari, Darius;
    • Fanto, Manolis;
    • Dionisi‐Vici, Carlo;
    • Jungbluth, Heinz
    Publication type:
    Article
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    Long‐term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12796
    By:
    • Feillet, François;
    • Arnoux, Jean‐Baptiste;
    • Delgado, María Bueno;
    • Burlina, Alberto;
    • Chabrol, Brigitte;
    • Kucuksayrac, Ece;
    • Lagler, Florian B.;
    • Muntau, Ania C.;
    • Olsson, David;
    • Paci, Sabrina;
    • Rutsch, Frank;
    • van Spronsen, Francjan J.
    Publication type:
    Article
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    A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12795
    By:
    • Holida, Myrl;
    • Linhart, Aleš;
    • Pisani, Antonio;
    • Longo, Nicola;
    • Eyskens, François;
    • Goker‐Alpan, Ozlem;
    • Wallace, Eric;
    • Deegan, Patrick;
    • Tøndel, Camilla;
    • Feldt‐Rasmussen, Ulla;
    • Hughes, Derralynn;
    • Sakov, Anat;
    • Rocco, Rossana;
    • Almon, Einat Brill;
    • Alon, Sari;
    • Chertkoff, Raul;
    • Warnock, David G.;
    • Waldek, Stephen;
    • Wilcox, William R.;
    • Bernat, John A.
    Publication type:
    Article
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