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

Results: 14

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

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

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

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

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

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

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

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