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A form of lipoidosis of the adrenal cortex in an infant.

作者信息

SANDISON A T

出版信息

Arch Dis Child. 1955 Dec;30(154):538-41. doi: 10.1136/adc.30.154.538.

DOI:10.1136/adc.30.154.538
PMID:13275986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2011836/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/b016d836a9e0/archdisch01639-0063-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/ecb529a1837f/archdisch01639-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/575bc25122b0/archdisch01639-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/b082314123ff/archdisch01639-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/b016d836a9e0/archdisch01639-0063-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/ecb529a1837f/archdisch01639-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/575bc25122b0/archdisch01639-0063-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/b082314123ff/archdisch01639-0063-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38ab/2011836/b016d836a9e0/archdisch01639-0063-d.jpg

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1
A form of lipoidosis of the adrenal cortex in an infant.婴儿肾上腺皮质脂质沉积症的一种形式。
Arch Dis Child. 1955 Dec;30(154):538-41. doi: 10.1136/adc.30.154.538.
2
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Adrenocortical insufficiency in infants; diagnostic features.婴儿肾上腺皮质功能不全；诊断特征。
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Thirty years of StAR gazing. Expanding the universe of the steroidogenic acute regulatory protein.三十年的类固醇生成急性调节蛋白探索。拓展类固醇生成急性调节蛋白的领域。
J Endocrinol. 2025 Feb 6;264(3). doi: 10.1530/JOE-24-0310. Print 2025 Mar 1.
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History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.

本文引用的文献

1
The effect of systemic disease on the adrenal cortex of the child.全身性疾病对儿童肾上腺皮质的影响。
J Pathol Bacteriol. 1953 Jul;66(1):171-83. doi: 10.1002/path.1700660121.
肾上腺研究史：从古代解剖学到当代分子生物学。
Endocr Rev. 2023 Jan 12;44(1):70-116. doi: 10.1210/endrev/bnac019.
4
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.鉴定一名经典型脂质型先天性肾上腺皮质增生症女孩中的两种新型类固醇生成急性调节蛋白变异体的特征。
Int J Mol Sci. 2020 Aug 27;21(17):6185. doi: 10.3390/ijms21176185.
5
Monogenic Disorders of Adrenal Steroidogenesis.遗传性肾上腺类固醇生物合成障碍
Horm Res Paediatr. 2018;89(5):292-310. doi: 10.1159/000488034. Epub 2018 Jun 6.
6
Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions.肾上腺雄激素及雄激素前体——定义、合成、调节与生理作用
Compr Physiol. 2014 Oct;4(4):1369-81. doi: 10.1002/cphy.c140006.
7
Early steps in steroidogenesis: intracellular cholesterol trafficking.类固醇生成的早期步骤：细胞内胆固醇转运。
J Lipid Res. 2011 Dec;52(12):2111-2135. doi: 10.1194/jlr.R016675. Epub 2011 Oct 5.
8
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.胆固醇侧链裂解酶 P450scc（CYP11A1）部分缺陷类似于非经典先天性脂肪肾上腺增生。
J Clin Endocrinol Metab. 2011 Mar;96(3):792-8. doi: 10.1210/jc.2010-1828. Epub 2010 Dec 15.
9
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.人类类固醇生成及其疾病的分子生物学、生物化学和生理学。
Endocr Rev. 2011 Feb;32(1):81-151. doi: 10.1210/er.2010-0013. Epub 2010 Nov 4.
10
Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia.对编码类固醇生成急性调节蛋白的小鼠基因进行靶向破坏，为先天性类脂质肾上腺增生提供了深入了解。
Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11540-5. doi: 10.1073/pnas.94.21.11540.