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

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Journal of Clinical Investigation, 1992

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Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

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Apilot study Impact of glucocorticoid receptor gene polymorphism on the metabolic profile of child patients with classical form of 21-hydroxylase deficiency

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Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

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Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia

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Common Genetic Variants of the Human Steroid 21- Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels

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The Genetics of Steroid 21-Hydroxylase Deficiency

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Congenital Adrenal Hyperplasia - The Main Effect of 21-Hydroxylase Deficiency

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Phyllis Speiser

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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

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CONGENITAL ADRENAL HYPERPLASIA DUE TO 21HYDROXYLASE (21-OHase) DEFICIENCY: PHENOTYPE/GENOTYPE CORRELATIONS IN NEWBORN SCREENING.??? 553

Sunil Nayak

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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

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Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations

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The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Annals of pediatric endocrinology & metabolism, 2016

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Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia 1

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The Journal of Clinical Endocrinology & Metabolism, 1999

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Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

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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

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Mutational Characterization of Steroid 21Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia

Selma Fernandes

Experimental and Clinical Endocrinology & Diabetes, 2009

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

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The Journal of Clinical Endocrinology Metabolism, 2013

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Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia

Leonidas Phylactou, Vassos Neocleous

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