Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (original ) (raw )Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Tinka Hovnik
Acta Chimica Slovenica, 2016
View PDFchevron_right
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Phyllis Speiser
Journal of Clinical Investigation, 1992
View PDFchevron_right
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Karl Schwab
Molecular and Cellular Pediatrics, 2020
View PDFchevron_right
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
Franz Waldhauser
European Journal of Endocrinology, 2005
View PDFchevron_right
Apilot study Impact of glucocorticoid receptor gene polymorphism on the metabolic profile of child patients with classical form of 21-hydroxylase deficiency
nanees salem
Mansoura Medical Journal
View PDFchevron_right
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
brian gonzalez
Proceedings of the National Academy of Sciences, 2013
View PDFchevron_right
Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
noura zouari
Clinical Endocrinology, 2011
View PDFchevron_right
Common Genetic Variants of the Human Steroid 21- Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels
Klara Koncz , Marton Doleschall
View PDFchevron_right
The Genetics of Steroid 21-Hydroxylase Deficiency
Javier Aisenberg
The Endocrinologist, 2005
View PDFchevron_right
Congenital Adrenal Hyperplasia - The Main Effect of 21-Hydroxylase Deficiency
Davide Carvalho
IntechOpen eBooks, 2022
View PDFchevron_right
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Natthakan Saiwaew
View PDFchevron_right
Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Gabriela Finkielstain
The Journal of Clinical Endocrinology & Metabolism, 2011
View PDFchevron_right
High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
Phyllis Speiser
Obstetrical & Gynecological Survey, 1986
View PDFchevron_right
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hydroxylase Deficiency
Claudio Kater
The Journal of Clinical Endocrinology & Metabolism, 2006
View PDFchevron_right
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21HYDROXYLASE (21-OHase) DEFICIENCY: PHENOTYPE/GENOTYPE CORRELATIONS IN NEWBORN SCREENING.??? 553
Sunil Nayak
Pediatric Research, 1996
View PDFchevron_right
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Jihad Obeid
Molecular Genetics and Metabolism, 2007
View PDFchevron_right
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
mohammad Taghi Akbari
Clinical Chemistry and Laboratory Medicine, 2010
View PDFchevron_right
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Susana Guerreiro
Frontiers in Endocrinology
View PDFchevron_right
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Gu-Hwan Kim
Annals of pediatric endocrinology & metabolism, 2016
View PDFchevron_right
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia 1
Csaba Barta
The Journal of Clinical Endocrinology & Metabolism, 1999
View PDFchevron_right
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Henrik Falhammar
BMC Endocrine Disorders
View PDFchevron_right
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency-management in adults
Barbara Grzechocińska , Urszula Ambroziak
Endokrynologia Polska
View PDFchevron_right
Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia
Miklós Garami
View PDFchevron_right
Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency
Berenice Mendonca
PLoS ONE, 2012
View PDFchevron_right
Mutational Characterization of Steroid 21Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia
Selma Fernandes
Experimental and Clinical Endocrinology & Diabetes, 2009
View PDFchevron_right
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W Speiser
The Journal of Clinical Endocrinology Metabolism, 2013
View PDFchevron_right
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
Leonidas Phylactou , Vassos Neocleous
Clinical Biochemistry, 2011
View PDFchevron_right