Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021

Autor: Cassiano Augusto Braga Silva, Luis Gustavo Modelli de Andrade, Maria Helena Vaisbich, Fellype de Carvalho Barreto

Publikováno v: Brazilian Journal of Nephrology, Vol 44, Iss 2, Pp 249-267 (2022)

Abstract Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations conc

Externí odkaz: https://doaj.org/article/f160da4c64324190b76457c1ae91c2ac

The impact of type 2 diabetes on bone metabolism

Autor: Claudia Pinheiro Sanches, Andre Gustavo Daher Vianna, Fellype de Carvalho Barreto

Publikováno v: Diabetology & Metabolic Syndrome, Vol 9, Iss 1, Pp 1-7 (2017)

Abstract Diabetes complications and osteoporotic fractures are two of the most important causes of morbidity and mortality in older patients and share many features including genetic susceptibility, molecular mechanisms, and environmental factors. Ty

Externí odkaz: https://doaj.org/article/242ca0ae80174666bc247e0f7e2f3b8a

Bone biopsy in nephrology practice

Autor: Fellype de Carvalho Barreto, Cleber Rafael Vieira da Costa, Luciene Machado dos Reis, Melani Ribeiro Custódio

Publikováno v: Brazilian Journal of Nephrology, Iss 0 (2018)

Abstract Renal osteodystrophy (ROD), a group of metabolic bone diseases secondary to chronic kidney disease (CKD), still represents a great challenge to nephrologists. Its management is tailored by the type of bone lesion - of high or low turnover -

Externí odkaz: https://doaj.org/article/d79dd8d653b8434596137d6f53a2c682

Consenso brasileiro de doença de fabry: recomendações de diagnóstico, triagem e tratamento. Comitê de doenças raras (Comdora) - SBN/2021

Autor: Cassiano Augusto Braga Silva, Luis Gustavo Modelli de Andrade, Maria Helena Vaisbich, Fellype de Carvalho Barreto

Publikováno v: Brazilian Journal of Nephrology v.44 n.2 2022
Jornal Brasileiro de Nefrologia
Sociedade Brasileira de Nefrologia (SBN)
instacron:SBN
SciELO
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Brazilian Journal of Nephrology n.ahead 2022
Brazilian Journal of Nephrology, Issue: ahead, Published: 23 FEB 2022

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning ki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23092c861a0311ba1b23b35616f766a3
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002022000200249

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry

Autor: Maria Helena Vaisbich, Luís Gustavo Modelli de Andrade, Precil Diego Miranda de Menezes Neves, Lílian Monteiro Pereira Palma, Maria Cristina Ribeiro de Castro, Cassiano Augusto Braga Silva, Maria Izabel Neves de Holanda Barbosa, Maria Goretti Moreira Guimarães Penido, Oreste Ângelo Ferra Neto, Roberta Mendes Lima Sobral, Silvana Maria Carvalho Miranda, Stanley de Almeida Araújo, Igor Gouveia Pietrobom, Henrique Mochida Takase, Cláudia Ribeiro, Rafael Marques da Silva, César Augusto Almeida de Carvalho, David José Barros Machado, Ana Mateus Simões Teixeira e Silva, Andreia Ribeiro da Silva, Enzo Ricardo Russo, Flávio Henrique Soares Barros, Jarinne Camilo Landim Nasserala, Luciana Schmitt Cardon de Oliveira, Lucimary de Castro Sylvestre, Rafael Weissheimer, Sueli Oliveira Nascimento, Gilson Bianchini, Fellype de Carvalho Barreto, Valéria Soares Pigozzi Veloso, Patrícia Marques Fortes, Vinicius Sardão Colares, Jaelson Guilhem Gomes, André Falcão Pedrosa Leite, Pablo Girardelli Mendonça Mesquita, Osvaldo Merege Vieira-Neto

Publikováno v: Clinical kidney journal. 15(8)

Background Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Regis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97bea6d8abe91bded1fb33524b566b96
https://pubmed.ncbi.nlm.nih.gov/35892013