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Updated: Jun 8, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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17α-基酶/17,20-酶缺乏症 (17-OHD):报告病例的元分析

Annabelle L Willemsen1, David J Torpy2, Sunita M C De Sousa2,3,4

  • 1School of Medicine, University of Notre Dame Australia, Sydney 2010, Australia.

The Journal of clinical endocrinology and metabolism
|November 5, 2024
PubMed
概括

缺陷的CYP17A1基因活性导致17-OHD,这是一个罕见的疾病. 这项研究将特定的CYP17A1基因型与高血压和性发育问题等临床特征联系起来,有助于诊断.

关键词:
缺少CYP17A1的情况出生性上腺增生症.性发育障碍性发育障碍的性发展障碍

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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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