Kater C.E.
13
Coauthors
4
Documentos
Volumen de publicaciones por año
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| Año de publicación | Num. Publicaciones |
|---|---|
| 2004 | 2 |
| 2010 | 2 |
Publicaciones por áreas de conocimiento
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| Área de conocimiento | Num. Publicaciones |
|---|---|
| Genética | 6 |
| Bioquímica | 2 |
Publicaciones por áreas temáticas
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| Área temática | Num. Publicaciones |
|---|---|
| Enfermedades | 4 |
| Fisiología humana | 2 |
| Farmacología y terapéutica | 1 |
| Bioquímica | 1 |
| Ginecología, obstetricia, pediatría, geriatría | 1 |
Principales fuentes de datos
| Origen | Num. Publicaciones |
|---|---|
| Scopus | 4 |
| Google Scholar | 0 |
| RRAAE | 0 |
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Coautores destacados por número de publicaciones
| Coautor | Num. Publicaciones |
|---|---|
| Richard J. Auchus | 4 |
| Costa-Santos M. | 2 |
| Czepielewski M. | 1 |
| Rodrigues T. | 1 |
| Papari-Zareei M. | 1 |
| Costenaro F. | 1 |
| Neres M.S. | 1 |
| Shackleton C.H.L. | 1 |
| Dias E. | 1 |
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Publicaciones del autor
Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency
ArticleAbstract: We performed molecular genetic analysis of 24 subjects from 19 families with 17-hydroxylase deficienPalabras claves:Autores:Costa-Santos M., Kater C.E., Richard J. AuchusFuentes:scopusDistinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency
ArticleAbstract: Objectives: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiePalabras claves:17, 17-hydroxylase deficiency, 20-lyase deficiency, Congenital adrenal hyperplasia, Corticosterone, CYP17, Urinary steroid metabolomeAutores:Kater C.E., Neres M.S., Richard J. Auchus, Shackleton C.H.L.Fuentes:scopusTwo 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 CYP17 Gene in HEK-293 Cells
ArticleAbstract: To date, only two among 46 mutations in the CYP17 gene cause 17-hydroxylase deficiency (17OHD) by diPalabras claves:Autores:Costa-Santos M., Dias E., Kater C.E., Richard J. AuchusFuentes:scopusCombined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patien
ArticleAbstract: Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rarePalabras claves:Autores:Costenaro F., Czepielewski M., Kater C.E., Papari-Zareei M., Richard J. Auchus, Rodrigues T.Fuentes:scopus