Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

104 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: ormazabal a. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Campistol J, Artuch R, Cormand B. Ribasés M, et al. Among authors: ormazabal a. Mol Genet Metab. 2007 Nov;92(3):274-7. doi: 10.1016/j.ymgme.2007.07.004. Epub 2007 Aug 14. Mol Genet Metab. 2007. PMID: 17698383
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Güttler F, Artuch R. Møller LB, et al. Among authors: ormazabal a. Prenat Diagn. 2005 Aug;25(8):671-5. doi: 10.1002/pd.1193. Prenat Diagn. 2005. PMID: 16049992
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal A, Garzía-Cazorla A, Serrano M, Artuch R. Pons R, et al. Among authors: ormazabal a. Mov Disord. 2013 Jul;28(8):1058-63. doi: 10.1002/mds.25382. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23389938
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: ormazabal a. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Arrabal L, et al. Among authors: ormazabal a. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. Neurogenetics. 2011. PMID: 21431957
Secondary abnormalities of neurotransmitters in infants with neurological disorders.
García-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazábal A, Pineda M, Fernández-Alvarez E, Campistol JM, Artuch RM. García-Cazorla A, et al. Among authors: ormazabal a. Dev Med Child Neurol. 2007 Oct;49(10):740-4. doi: 10.1111/j.1469-8749.2007.00740.x. Dev Med Child Neurol. 2007. PMID: 17880642 Free article.
104 results