Concepedia

Marivânia Costa‐Santos

MC

3

Publications

282

Citations

3

H-Index

2004

Active since

Affiliations

Universidade Federal de São Paulo(Current)

The University of Texas Southwestern Medical Center

Marivânia Costa‐Santos is an author at Universidade Federal de São Paulo specializing in inherited metabolic disease, medicine, and pathology.

Top concepts

Publications per year

2004–2017

3

Publications

3

Two Prevalent<i>CYP17</i>Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency

Marivânia Costa‐Santos, Cláudio E. Kater, Richard J. Auchus · The Journal of Clinical Endocrinology & Metabolism · 2004 · 219 citations · Full text

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Two Intronic Mutations Cause 17-Hydroxylase Deficiency by Disrupting Splice Acceptor Sites: Direct Demonstration of Aberrant Splicing and Absent Enzyme Activity by Expression of the Entire<i>CYP17</i>Gene in HEK-293 Cells

Marivânia Costa‐Santos, Cláudio E. Kater, Eduardo P. Dias et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 35 citations · Full text

17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients

Rafaela Fontenele, Marivânia Costa‐Santos, Cláudio E. Kater · Endocrine Practice · 2017 · 28 citations

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