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Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy SP, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier EM, Mühlhausen C, Haege G, Hoffmann GF, Burgard P, Kölker S. Heringer J, et al. Among authors: assmann b. Ann Neurol. 2010 Nov;68(5):743-52. doi: 10.1002/ana.22095. Ann Neurol. 2010. PMID: 21031586 Clinical Trial.
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: assmann b. 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.
78 results