lipoid adrenal hyperplasia 是什么意思，中文意思 | 类脂性肾上腺增生英文怎么说医学英语中英文词汇翻译

Atypical Presentation and Novel StAR Protein Gene Mutation in a 46, XY Female with Lipoid Congenital Adrenal Hyperplasia

O Lekarev, Y Morel… - Hormonal and Genetic Basis of …, 2011 - books.google.com
Chapter 29 Atypical Presentation and Novel StAR Protein Gene Mutation in a 46, XY Female
with Lipoid Congenital Adrenal Hyperplasia Oksana Lekarev, Yves Morel, and Maria I. New Introduction
Congenital lipoid adrenal hyperplasia is a severe disorder of adrenal and gonadal ...
All 2 versions

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

T Sahakitrungruang, MK Tee… - Journal of Clinical …, 2011 - Endocrine Soc
Context: The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1
gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc
cause a rare autosomal recessive disorder that is clinically indistinguishable from ...
Cited by 1 - Related articles - All 4 versions

… frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the StAR gene in Korean patients with congenital lipoid adrenal hyperplasia

JM Kim, JH Choi, JH Lee, GH Kim, BH Lee… - European Journal of …, 2011 - EFES
... mutation in the StAR gene in Korean patients with congenital lipoid adrenal hyperplasia Running
title: Functional analysis of a novel StAR mutation Authors: ... Abbreviations: CLAH, congenital lipoid
adrenal hyperplasia; StAR, steroidogenic acute regulatory protein ...

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia

HY Jin, JH Choi, BH Lee, GH Kim… - European journal of …, 2011 - Springer
Abstract Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital
adrenal hyperplasia, characterized by lack of synthesis of all gonadal and adrenal steroid
hormones. Ovarian cysts can develop as complications of CLAH. However, the precise ...
Cited by 1 - Related articles - All 4 versions

[HTML] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

[HTML] from plos.orgCE Flück, AV Pandey, B Dick, N Camats… - PloS one, 2011 - dx.plos.org
Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria
where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal
hyperplasia (LCAH). ... StAR gene mutations causing partial loss of function manifest ...
Related articles - Cached - All 3 versions

Atypical Presentation and Novel StAR Protein Gene Mutation in a 46, XY Female with Lipoid Congenital Adrenal Hyperplasia

O Lekarev, Y Morel… - Hormonal and Genetic Basis of …, 2011 - books.google.com
Chapter 29 Atypical Presentation and Novel StAR Protein Gene Mutation in a 46, XY Female
with Lipoid Congenital Adrenal Hyperplasia Oksana Lekarev, Yves Morel, and Maria I. New Introduction
Congenital lipoid adrenal hyperplasia is a severe disorder of adrenal and gonadal ...
All 2 versions

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

T Sahakitrungruang, MK Tee… - Journal of Clinical …, 2011 - Endocrine Soc
Context: The cholesterol side-chain cleavage enzyme (P450scc), encoded by the CYP11A1
gene, converts cholesterol to pregnenolone to initiate steroidogenesis. Genetic defects in P450scc
cause a rare autosomal recessive disorder that is clinically indistinguishable from ...
Cited by 1 - Related articles - All 4 versions

… frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the StAR gene in Korean patients with congenital lipoid adrenal hyperplasia

JM Kim, JH Choi, JH Lee, GH Kim, BH Lee… - European Journal of …, 2011 - EFES
... mutation in the StAR gene in Korean patients with congenital lipoid adrenal hyperplasia Running
title: Functional analysis of a novel StAR mutation Authors: ... Abbreviations: CLAH, congenital lipoid
adrenal hyperplasia; StAR, steroidogenic acute regulatory protein ...

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia

HY Jin, JH Choi, BH Lee, GH Kim… - European journal of …, 2011 - Springer
Abstract Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital
adrenal hyperplasia, characterized by lack of synthesis of all gonadal and adrenal steroid
hormones. Ovarian cysts can develop as complications of CLAH. However, the precise ...
Cited by 1 - Related articles - All 4 versions

[HTML] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

[HTML] from plos.orgCE Flück, AV Pandey, B Dick, N Camats… - PloS one, 2011 - dx.plos.org
Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria
where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal
hyperplasia (LCAH). ... StAR gene mutations causing partial loss of function manifest ...
Related articles - Cached - All 3 versions

美国ACCDON公司旗下品牌

[HTML] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

[HTML] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia