Thiago Oliveira Silva

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura Adang, Lars Schlotawa, Samuel Groeschel et al. · Journal of Inherited Metabolic Disease · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel <b><i>AHDC1</i></b> Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

Augusto César Cardoso‐dos‐Santos, Thiago Oliveira Silva, Anderson Silveira Faccini et al. · Molecular Syndromology · 2020 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza et al. · Jornal de Pediatria · 2019 · 16 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel et al. · Disease Models & Mechanisms · 2020 · 10 citations · Full text

Medicine, Genetics, Pathology +17