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The common p450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency
(ENDOCRINE SOC, 2008)
Context: 21-hydroxylase deficiency (21OHD) is a common genetic disorder caused by mutations in the CYP21A2 gene, which encodes the adrenal 21-hydroxylase, microsomal P450c21. CYP21A2 gene mutations generally correlate well ...
A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism
(SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIARIO DE JANEIRO, RJ, 2012)
We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. ...
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
(National Academy of Sciences, 2017-03)
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by ...
Deficiência da 11beta-hidroxilase11beta-hydroxylase deficiency
(Sociedade Brasileira de Endocrinologia e Metabologia, 2004)
Cardiorespiratory, endocrine and metabolic changes in ponies undergoing intravenous or inhalation anaesthesia
(1996-08-21)
Six Welsh gelding ponies (weight 246 ± 6 kg) were premedicated with 0.03 mg/kg of acepromazine intravenously (i.v.) followed by 0.02 mg/kg of detomidine i.v. Anaesthesia was induced with 2 mg/kg of ketamine i.v. Ponies ...