Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia (original) (raw)
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype
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2004
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Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment
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Congenital Adrenal Hyperplasia Due to 21 Hydroxy Deficiency in a Female Newborn With Ambiguous Genitalia Who Had a False-Negative Newborn Screening and Delayed Salt Wasting
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Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
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Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis
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Neonatal Screening Program for Congenital Adrenal Hyperplasia in a Homogeneous Caucasian Population
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Congenital Adrenal Hyperplasia: Experience in Iranian Patients
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Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis
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Successful antenatal treatment of an affected congenital adrenal hyperplasia pregnancy using linkage analysis
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Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
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Low Estriol Levels in the Maternal Triple-Marker Screen as a Predictor of Isolated Adrenocorticotropic Hormone Deficiency Caused by a New Mutation in the TPIT Gene
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Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society
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CONGENITAL ADRENAL HYPERPLASIA DUE TO 21HYDROXYLASE (21-OHase) DEFICIENCY: PHENOTYPE/GENOTYPE CORRELATIONS IN NEWBORN SCREENING.??? 553
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Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening
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Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids
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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
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The Journal of Clinical Endocrinology & Metabolism, 2011
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Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population
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Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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Sonography in prenatal diagnosis of congenital adrenal hyperplasia
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Regarding the Consensus Statement on 21-Hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology
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Long-Term Somatic Follow-Up of Prenatally Treated Children with Congenital Adrenal Hyperplasia 1
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The Journal of Clinical Endocrinology & Metabolism, 1998
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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
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Congenital Adrenal Hyperplasia
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Biochemical aspects of congenital adrenal hyperplasia
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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)
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The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
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Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
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Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency 1
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