GENETIC ANALYSIS OF A BRAZILIAN NEPHROPATHIC CYSTINOSIS COHORT REVEALS NOVEL CTNS VARIANTS MOSTLY OF NON-EUROPEAN ORIGIN.

Autor: Vaisbich, Maria Helena, Nunes, Kelly, Rangel Santos, Andreia, Caires Ferreira, Juliana, Macaferri Nunes, Fernanda, Watanabe, Andreia, Fernando Onuchic, Luiz

Publikováno v: Brazilian Journal of Nephrology / Jornal Brasileiro de Nefrologia; 2021 Supplement, Vol. 43, p49-49, 1/2p

Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.

Autor: Vaisbich MH; São Paulo University Medical School São Paulo Brazil., Caires Ferreira J; Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP) São Paulo Brazil., Price H; Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA., Young KD; Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA., Sile S; Horizon Therapeutics plc Deerfield Illinois USA., Checani G; Horizon Therapeutics plc Deerfield Illinois USA., Langman CB; Feinberg School of Medicine Northwestern University Chicago Illinois USA.

Publikováno v: JIMD reports [JIMD Rep] 2021 Nov 01; Vol. 63 (1), pp. 66-79. Date of Electronic Publication: 2021 Nov 01 (Print Publication: 2022).