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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8. J Clin Endocrinol Metab. 2005. PMID: 15755848
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG. Barbaro M, et al. Among authors: riepe fg. Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456342 Free article.
Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency.
Riepe FG, Krone N, Peter M, Sippell WG, Partsch CJ. Riepe FG, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Mar 5;785(2):293-301. doi: 10.1016/s1570-0232(02)00921-2. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12554142
94 results