about
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineFunctional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneProteomic analysis of peripheral T lymphocytes, suitable circulating biosensors of strictly related diseases.Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Profiles of 21-Carbon Steroids in 21-hydroxylase DeficiencyMutation analysis of the CYP21A2 gene in the Iranian population.Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).Adrenal steroidogenesis and congenital adrenal hyperplasia.The next 150 years of congenital adrenal hyperplasia.Dried blood spot testing for seven steroids using liquid chromatography-tandem mass spectrometry with reference interval determination in the Korean population.Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.21-hydroxylase deficiency: newborn screening in iran?An unusual case of secondary amenorrhoeaMutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update.Congenital adrenal hyperplasia: an update in children.Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism.Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.Genetics of congenital adrenal hyperplasia.Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.Defects of steroidogenesis.Therapy of adrenal insufficiency: an update.A comparative quality assessment of evidence-based clinical guidelines in endocrinology.The clinical use of corticosteroids in pregnancy.Multiple positive results during a neonatal screening program: a retrospective analysis of incidence, clinical implications and outcomes.Fertility among women with classical congenital adrenal hyperplasia: report of seven cases where treatment was started after 9 years of age.Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia.[Congenital adrenal hyperplasia: a qualitative study on sex definition and redesignation dilation surgery and psychological support (part II)].21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.Treatment of the Enlarged Clitoris.Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
P2860
Q24614223-E7961AB3-C637-44A9-8A33-73CDD5317C6AQ28541471-FDC48A4E-3F0A-481C-AE94-7CA29B15A2BFQ33300579-7D5FE35E-F8C5-4391-B003-F4F1B0ED7078Q33802852-DA938361-EA8F-4278-A9BA-CF3BF3013A03Q35041404-CCA4E72B-A08B-4FC2-A1E5-A3B806BAA96BQ35680882-54EC4E15-136B-4B23-A1FB-1BCF1A2CF8B8Q35752173-7AB53495-8602-4456-8DED-B9C0F856DA66Q35789890-F67B02A7-F9CF-4CEB-93E3-C6FFBB4A9FA0Q35863921-0FB05752-7E32-4364-B90D-007E6B3BC2DCQ36055119-22AE0604-4F5E-4EC3-9467-3BD930703E2BQ36083686-7F38A08E-D25B-40AA-8D73-3F24EBF7A09BQ36494432-01020BAB-672F-43CC-8B10-2BB7A136A2D0Q36586778-863CB2A0-5874-4265-8F11-8ED89042D1E8Q36716225-E51F7C97-0E69-4019-A113-685FF9A8638FQ36749989-F8913FE8-E3A2-4796-9005-0C093AF3FF99Q36802281-087A8DC2-D106-4FAA-9F40-DDC3C509F79FQ36802670-261D33F1-F1A2-41D6-84B7-523CCE9CB2BDQ36986049-BCA2F468-EFC9-4CBF-823A-F531D9F4E2E5Q37489113-35044A47-2575-46AD-93D2-A311D671F827Q37509474-85EE61A8-DAE2-40DA-AFAC-8DE85D73EE17Q37672420-6450A196-890D-4637-AAED-825CC5818B3FQ37700091-EB0AD218-568F-459C-891E-3A81B9C19099Q38062413-84AFE6FF-F308-42BA-9A1D-F2649ED58DE2Q38403308-4B7DBACC-788F-48D7-BA04-EB7568EF718AQ38641374-F53A7CA2-E8A3-479B-B762-6E8CA2EFD575Q46508113-6A12B0FB-9BE2-47CE-AB77-A8DB556F257DQ46527802-1E4AFA5F-88D7-4B32-B007-AAF86C91388FQ47334157-3DF62CBD-9209-42DD-90A4-22E1259210E7Q47718138-63BC9F28-B30F-4B05-8BA4-2A294CFBE6F4Q47779032-5DDA31FF-AF26-4812-9421-386AD7661267Q49181479-8445AAD3-5451-48E4-A5F0-408EA9288FBBQ50024650-89F78CAD-73DA-4531-AA95-5453282C5ADC
P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Newborn screening for congenital adrenal hyperplasia.
@ast
Newborn screening for congenital adrenal hyperplasia.
@en
Newborn screening for congenital adrenal hyperplasia.
@nl
type
label
Newborn screening for congenital adrenal hyperplasia.
@ast
Newborn screening for congenital adrenal hyperplasia.
@en
Newborn screening for congenital adrenal hyperplasia.
@nl
prefLabel
Newborn screening for congenital adrenal hyperplasia.
@ast
Newborn screening for congenital adrenal hyperplasia.
@en
Newborn screening for congenital adrenal hyperplasia.
@nl
P1476
Newborn screening for congenital adrenal hyperplasia.
@en
P2093
Therrell BL
P356
10.1016/S0889-8529(08)70017-3
P577
2001-03-01T00:00:00Z