Artigo Acesso aberto Revisado por pares

28 AN INTERNATIONAL STUDY EVALUATING THE FARNESOID X RECEPTOR AGONIST OBETICHOLIC ACID AS MONOTHERAPY IN PBC

2011; Elsevier BV; Volume: 54; Linguagem: Inglês

10.1016/s0168-8278(11)60030-5

ISSN

1600-0641

Autores

Kris V. Kowdley, David Jones, Velimir A. Luketic, Robert Chapman, A.K. Burroughs, Gideon M. Hirschfield, Raoul Poupon, Christoph Schramm, C. Vincent, C Rust, Albert Parés, Andrew L. Mason, Cathi Sciacca, T. Beecher-Jones, O. Böhm, Erin Castelloe, Mark Pruzanski, Д. А. Шапиро,

Tópico(s)

Inflammatory mediators and NSAID effects

Resumo

Conclusions: Individuals with ALGS due to JAG1-or NOTCH2-related disease have a similar pattern of hepatic involvement, while the prevalence of a renal phenotype is higher among NOTCH2 mutationpositive ALGS individuals.Facial features and vertebral defects are less penetrant, supporting the notion that the diagnostic criteria for ALGS require revision.Individuals with partial ALGS features should still be considered for this diagnosis and should undergo sequential JAG1 and then NOTCH2 mutation screening.

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