Works matching IS 01418955 AND DT 2023 AND VI 46 AND IP 3

Results: 12

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 391, doi. 10.1002/jimd.12618

By:

Yuan, Yuheng;
Dimitrov, Bianca;
Boy, Nikolas;
Gleich, Florian;
Zielonka, Matthias;
Kölker, Stefan

Publication type:

Article

New insights into the pathophysiology of methylmalonic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 436, doi. 10.1002/jimd.12617

By:

Head, PamelaSara E.;
Meier, Jordan L.;
Venditti, Charles P.

Publication type:

Article

Organic acidurias: Ingredients for precision medicine.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 369, doi. 10.1002/jimd.12614

By:

Kölker, Stefan;
Baumgartner, Matthias R.

Publication type:

Article

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 466, doi. 10.1002/jimd.12613

By:

Chakrapani, Anupam;
Stojanovic, Jelena;
Vara, Roshni;
De Nictolis, Francesca;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Inborn Metabolic Diseases, Jean‐Marie Saudubray, Matthias R. Baumgartner, Angeles Garcia‐Cazorla, John H. Walter Eds, 7th edition, Springer, Berlin, Germany, 2022.

Published in:

2023

By:

Brunetti‐Pierri, Nicola

Publication type:

Book Review

Exploring genotype–phenotype correlations in glutaric aciduria type 1.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 371, doi. 10.1002/jimd.12608

By:

Schuurmans, Imke M. E.;
Dimitrov, Bianca;
Schröter, Julian;
Ribes, Antonia;
de la Fuente, Rubén Pérez;
Zamora, Berta;
van Karnebeek, Clara D. M.;
Kölker, Stefan;
Garanto, Alejandro

Publication type:

Article

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 450, doi. 10.1002/jimd.12599

By:

Martinelli, Diego;
Catesini, Giulio;
Greco, Benedetta;
Guarnera, Alessia;
Parrillo, Chiara;
Maines, Evelina;
Longo, Daniela;
Napolitano, Antonio;
De Nictolis, Francesca;
Cairoli, Sara;
Liccardo, Daniela;
Caviglia, Stefania;
Sidorina, Anna;
Olivieri, Giorgia;
Siri, Barbara;
Bianchi, Roberto;
Spagnoletti, Gionata;
Dello Strologo, Luca;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

The complex machinery of human cobalamin metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 406, doi. 10.1002/jimd.12593

By:

McCorvie, Thomas J.;
Ferreira, Douglas;
Yue, Wyatt W.;
Froese, D. Sean

Publication type:

Article

How guideline development has informed clinical research for organic acidurias (et vice versa).

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 520, doi. 10.1002/jimd.12586

By:

Forny, Patrick;
Hörster, Friederike;
Baumgartner, Matthias R.;
Kölker, Stefan;
Boy, Nikolas

Publication type:

Article

Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 421, doi. 10.1002/jimd.12575

By:

Ramon, Charlotte;
Traversi, Florian;
Bürer, Céline;
Froese, D. Sean;
Stelling, Jörg

Publication type:

Article

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566

By:

Boy, Nikolas;
Mühlhausen, Chris;
Maier, Esther M.;
Ballhausen, Diana;
Baumgartner, Matthias R.;
Beblo, Skadi;
Burgard, Peter;
Chapman, Kimberly A.;
Dobbelaere, Dries;
Heringer‐Seifert, Jana;
Fleissner, Sandra;
Grohmann‐Held, Karina;
Hahn, Gabriele;
Harting, Inga;
Hoffmann, Georg F.;
Jochum, Frank;
Karall, Daniela;
Konstantopoulous, Vassiliki;
Krawinkel, Michael B.;
Lindner, Martin

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 1, doi. 10.1002/jimd.12517
Publication type:: Article