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Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers.
Smith N, Longo N, Levert K, Hyland K, Blau N. Smith N, et al. Among authors: hyland k. Mol Genet Metab Rep. 2019 Aug 12;21:100500. doi: 10.1016/j.ymgmr.2019.100500. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31453106 Free PMC article.
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: hyland k. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.
Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB. Saunders-Pullman R, et al. Among authors: hyland k. Mol Genet Metab. 2004 Nov;83(3):207-12. doi: 10.1016/j.ymgme.2004.07.010. Mol Genet Metab. 2004. PMID: 15542391
310 results