Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 3

Results: 14

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
By:
- Julia‐Palacios, Natalia Alexandra;
- Kuseyri Hübschmann, Oya;
- Olivella, Mireia;
- Pons, Roser;
- Horvath, Gabriella;
- Lücke, Thomas;
- Fung, Cheuk‐Wing;
- Wong, Suet‐Na;
- Cortès‐Saladelafont, Elisenda;
- Rovira‐Remisa, M. Mar;
- Yıldız, Yılmaz;
- Mercimek‐Andrews, Saadet;
- Assmann, Birgit;
- Stevanović, Galina;
- Manti, Filippo;
- Brennenstuhl, Heiko;
- Jung‐Klawitter, Sabine;
- Jeltsch, Kathrin;
- Sivri, H. Serap;
- Garbade, Sven F.
Publication type:
Article
Neurotransmitters ... it is all about communication!
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 409, doi. 10.1002/jimd.12748
By:
- Opladen, Thomas;
- Bertoldi, Mariarita
Publication type:
Article
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 476, doi. 10.1002/jimd.12735
By:
- Lee, Henry H. C.;
- Latzer, Itay Tokatly;
- Bertoldi, Mariarita;
- Gao, Guangping;
- Pearl, Phillip L.;
- Sahin, Mustafa;
- Rotenberg, Alexander
Publication type:
Article
Mouse models for inherited monoamine neurotransmitter disorders.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 533, doi. 10.1002/jimd.12710
By:
- Thöny, Beat;
- Ng, Joanne;
- Kurian, Manju A.;
- Mills, Philippa;
- Martinez, Aurora
Publication type:
Article
Tetrahydrobiopterin (BH<sub>4</sub>) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 494, doi. 10.1002/jimd.12702
By:
- Jung‐KC, Kunwar;
- Tristán‐Noguero, Alba;
- Altankhuyag, Altanchimeg;
- Piñol Belenguer, David;
- Prestegård, Karina S.;
- Fernandez‐Carasa, Irene;
- Colini Baldeschi, Arianna;
- Sigatulina Bondarenko, Maria;
- García‐Cazorla, Angeles;
- Consiglio, Antonella;
- Martinez, Aurora
Publication type:
Article
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 517, doi. 10.1002/jimd.12690
By:
- Jung‐Klawitter, Sabine;
- Richter, Petra;
- Yuan, Yuheng;
- Welzel, Karin;
- Kube, Marie;
- Bähr, Stella;
- Leibner, Alexander;
- Flory, Egbert;
- Opladen, Thomas
Publication type:
Article
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
By:
- Illescas, Sofía;
- Diaz‐Osorio, Yaiza;
- Serradell, Anna;
- Toro‐Soria, Lucía;
- Musokhranova, Uliana;
- Juliá‐Palacios, Natalia;
- Ribeiro‐Constante, Juliana;
- Altafaj, Xavier;
- Olivella, Mireia;
- O'Callaghan, Mar;
- Darling, Alejandra;
- Armstrong, Judith;
- Artuch, Rafael;
- García‐Cazorla, Àngels;
- Oyarzábal, Alfonso
Publication type:
Article
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 413, doi. 10.1002/jimd.12675
By:
- Badnjarevic, Ivana;
- Moyer, Kelly;
- Bertoldi, Mariarita;
- Opladen, Thomas;
- Flint, Lisa
Publication type:
Article
Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 509, doi. 10.1002/jimd.12674
By:
- Didiasova, Miroslava;
- Banning, Antje;
- Tikkanen, Ritva
Publication type:
Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
By:
- Yıldız, Yılmaz;
- Kuseyri Hübschmann, Oya;
- Akgöz Karaosmanoğlu, Ayça;
- Manti, Filippo;
- Karaca, Meryem;
- Schwartz, Ida Vanessa D.;
- Pons, Roser;
- López‐Laso, Eduardo;
- Palacios, Natalia Alexandra Julia;
- Porta, Francesco;
- Kavecan, Ivana;
- Balcı, Mehmet Cihan;
- Dy‐Hollins, Marisela E.;
- Wong, Suet‐Na;
- Oppebøen, Mari;
- Medeiros, Leonardo Simão;
- de Paula, Leila Cristina Pedroso;
- García‐Cazorla, Angeles;
- Hoffmann, Georg F.;
- Jeltsch, Kathrin
Publication type:
Article
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 411, doi. 10.1002/jimd.12641
By:
- Cinquemani, Claudio;
- Gujar, Jidnyasa;
- Opladen, Thomas
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 1, doi. 10.1002/jimd.12629
Publication type:
Article
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 417, doi. 10.1002/jimd.12657
By:
- Peters, Tessa M. A.;
- Engelke, Udo F. H.;
- de Boer, Siebolt;
- Reintjes, Joris T. G.;
- Roullet, Jean‐Baptiste;
- Broekman, Sanne;
- de Vrieze, Erik;
- van Wijk, Erwin;
- Wamelink, Mirjam M. C.;
- Artuch, Rafael;
- Barić, Ivo;
- Merx, Jona;
- Boltje, Thomas J.;
- Martens, Jonathan;
- Willemsen, Michèl A. A. P.;
- Verbeek, Marcel M.;
- Wevers, Ron A.;
- Gibson, K. Michael;
- Coene, Karlien L. M.
Publication type:
Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
By:
- Roubertie, Agathe;
- Opladen, Thomas;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Flint, Lisa;
- Willemsen, Michel A.;
- Leuzzi, Vincenzo;
- Cazorla, Angels Garcia;
- Kurian, Manju A.;
- François‐Heude, Marie Céline;
- Hwu, Paul;
- Zeev, Bruria Ben;
- Kiening, Karl;
- Roujeau, Thomas;
- Pons, Roser;
- Pearson, Toni S.
Publication type:
Article