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Luiz Roberto da Silva

Explore the profile of Luiz Roberto da Silva including associated specialties, affiliations and a list of published articles. Areas
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Citations 8
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Recent Articles
1.
Martins K, Alves F, Silva L, Silva L, Segundo G
J Pediatr (Rio J) . 2024 Jul; 100(6):653-659. PMID: 39053889
Objective: Individuals with Down Syndrome (DS) exhibit a higher susceptibility to infections, suggesting potential immunological alterations within this population. Consequently, this study aims to assess the immune response profile in...
2.
Linhares N, Fagundes E, Ferreira A, Queiroz T, Silva L, Pena S
Front Genet . 2022 Mar; 13:796759. PMID: 35281816
The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in or . The classical presentation includes congenital joint contractures, renal tubular dysfunction,...
3.
Giugliani R, Barth A, Dumas M, da Silva Franco J, Giuliani L, Grangeiro C, et al.
Orphanet J Rare Dis . 2021 May; 16(1):238. PMID: 34022924
Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications...
4.
Artigalas O, Silva L, Burin M, Pastores G, Zeng B, Macedo N, et al.
Metab Brain Dis . 2009 Aug; 24(3):493-500. PMID: 19697114
Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease in which the activities of all sulfatases are reduced; its estimated prevalence is 1:1.4 million births. The disease is caused...