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Journal of Community Genetics|January 10, 2025
Newborn screening in Brazil: realities and challengesCarolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, et al.Molecular Genetics and Metabolism Reports|December 4, 2024
A novel frameshift variant in the <i>SLC2A1</i> gene causing a mild phenotype of GLUT1 deficiency syndrome: case reportLívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, et al.Molecular Syndromology|April 8, 2020
Novel <i>AHDC1</i> Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs SyndromeAugusto C Cardoso-Dos-Santos, Thiago Oliveira Silva, Anderson Silveira Faccini, et al.Jornal De Pediatria|November 4, 2019
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian centerAna Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, et al.Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.Disease Models & Mechanisms|October 7, 2020
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gammaLena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, et al.Journal of Pediatric Hematology/Oncology|August 4, 2023
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature ReviewJúlia Plentz Portich, Aline Sinhorelo Ribeiro, Adriano Nori Rodrigues Taniguchi, et al.Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.Pageof 1