RECENT ADVANCES IN MOLECULAR ANALYSIS APPLIED TO DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY

被引:0
|
作者
MORNET, E
BOUE, J
CRETE, P
RAUXDEMAY, MC
KUTTEN, F
BOUE, A
机构
[1] HOP NECKER ENFANTS MALAD,ENDOCRINOL & MED REPROD LAB,F-75730 PARIS 15,FRANCE
[2] HOP TROUSSEAU,EXPLORAT FONCT LAB,F-75571 PARIS 12,FRANCE
来源
ARCHIVES FRANCAISES DE PEDIATRIE | 1992年 / 49卷 / 01期
关键词
ADRENAL HYPERPLASIA; CONGENITAL; MOLECULAR BIOLOGY; GENETIC MARKER; GENETIC COUNSELING; GENETIC TECHNICS;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:57 / 62
页数:6
相关论文
共 50 条
  • [1] RECENT ADVANCES IN 21-HYDROXYLASE DEFICIENCY
    NEW, MI
    LEVINE, LS
    ANNUAL REVIEW OF MEDICINE, 1984, 35 : 649 - 663
  • [2] Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Forest, MG
    HUMAN REPRODUCTION UPDATE, 2004, 10 (06) : 469 - 485
  • [3] An overview of molecular diagnosis of steroid 21-hydroxylase deficiency
    Keegan, CE
    Killeen, AA
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2001, 3 (02): : 49 - 54
  • [4] Editorial: Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Cetinkaya, Semra Caglar
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [5] Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Riepe, Felix G.
    Sippell, Wolfgang G.
    REVIEWS IN ENDOCRINE & METABOLIC DISORDERS, 2007, 8 (04): : 349 - 363
  • [6] Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Felix G. Riepe
    Wolfgang G. Sippell
    Reviews in Endocrine and Metabolic Disorders, 2007, 8 : 349 - 363
  • [7] Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
    Arriba, Maria
    Ezquieta, Begona
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [8] MOLECULAR PATHOLOGY OF 21-HYDROXYLASE DEFICIENCY
    STRACHAN, T
    JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (04) : 430 - 441
  • [9] Molecular Genetics of 21-Hydroxylase Deficiency
    Wedell, Anna
    PEDIATRIC ADRENAL DISEASES, 2011, 20 : 80 - 87
  • [10] Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency
    Xia, Yanjie
    Yu, Feng
    Bai, Ying
    Jiang, Lili
    Shi, Panlai
    Jiang, Zhengwen
    Kong, Xiangdong
    ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)