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Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
Ribas GS, Souza HM, de Mari J, Deon M, Mescka C, Saraiva-Pereira ML, Kessler R, Trapp F, Michelin K, Burin M, Vargas CR, Giugliani R. Ribas GS, et al. Among authors: de mari j. Clin Chim Acta. 2016 Aug 1;459:57-62. doi: 10.1016/j.cca.2016.05.015. Epub 2016 May 24. Clin Chim Acta. 2016. PMID: 27234403 Free article. No abstract available.
[Transient neonatal tyrosinemia: a frequent abnormality].
Camargo Neto EC, Schulte J, Anele EV, Rubim R, Lewis E, De Mari J, Brites A, Pires R, Giugliani R. Camargo Neto EC, et al. Among authors: de mari j. J Pediatr (Rio J). 1998 Nov-Dec;74(6):447-50. doi: 10.2223/jped.461. J Pediatr (Rio J). 1998. PMID: 14685586 Portuguese.
26 results