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