Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 ( SRD5A2 ) gene in a Brazilian patient: case report
Laureano, Daniela P, Kirjner, Vitória, Ferraro, Lethicia C, Carvalho, Clarissa G, Leite, Julio César L, Hemesath, Tatiana P, Costa, Eduardo Corrêa, Guaragna-Filho, Guilherme, Leistner, Sandra
Published in Journal of Pediatric Endocrinology and Metabolism (04.10.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (04.10.2024)
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COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective
Schwartz, Ida V.D., Randon, Dévora N., Ferraro, Lethicia C., de Souza, Carolina F.M., Horovitz, Dafne D.G., de Sá, Natan M., Brunoni, Decio
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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