Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
about
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisCongenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineACTH AntagonistsRecent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyFunctional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneStructure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Nonclassic congenital adrenal hyperplasiaEndocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia.Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update.Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.Obesity in children with congenital adrenal hyperplasia in the Minnesota cohort: importance of adjusting body mass index for height-age.Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.Bone mineral density and body composition in children with congenital adrenal hyperplasia.
P2860
Q24531477-79BA49CF-E335-4173-9711-01C851751F9AQ24614223-5556F069-F6BA-447F-BEDE-9FE3EADD05BEQ26740152-844E06DA-0BE7-410E-A532-375F7B0C9D9DQ26751005-E2AF5DC6-32EC-459E-92F8-640F74F16112Q28541471-9568D69F-1458-49FC-8628-C10473B24CF0Q33802852-FC207DD5-B7DF-4DB6-9F5C-664C051420D6Q34021657-9B3DFCAC-BD4B-4975-95BF-9671D065EF50Q34798534-314D60FF-B817-40BB-8EDA-04045DFB6933Q35256765-B0D7EF38-3DFB-48A6-A022-5BD0C8FC283EQ36155738-07CE33D7-05B3-48A5-ADF5-428FAF321A41Q36265163-BE3554EF-00AA-4E5D-974D-8128C0E1694BQ36802281-0D12071E-3597-49EF-9C6F-4D061F6355FFQ37295033-F9C104F8-AE27-433F-88BE-F0FE1EE454B4Q37501822-98CA4FCC-CEC1-4A49-AA42-95E864CB38AFQ37732675-0C916855-CEA7-485F-9B54-D6A63C02446AQ40335044-D95B645D-2E7A-4E01-AEB4-2C511CE6EA9EQ42147595-D90BEA83-10E9-430A-B750-939518F83EB4Q49822831-F1DACD9E-7410-4DAF-A1BA-67597FF7489B
P2860
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
@en
type
label
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
@en
prefLabel
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
@en
P1476
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
@en
P2093
W L Miller
P304
P356
10.1210/JCEM.78.2.8106606
P407
P577
1994-02-01T00:00:00Z