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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: artuch r. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
[Inborn errors of neurotransmitters in neuropaediatrics].
García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J. García-Cazorla A, et al. Among authors: artuch r. Rev Neurol. 2005 Jul 16-31;41(2):99-108. Rev Neurol. 2005. PMID: 16028189 Free article. Review. Spanish.
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: artuch r. Prenat Diagn. 2005 Aug;25(8):671-5. doi: 10.1002/pd.1193. Prenat Diagn. 2005. PMID: 16049992
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: artuch rm. 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.
334 results