Related Experiment Video

Updated: Aug 22, 2025

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
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Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Published on: September 27, 2024

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Side-chain cleavage enzyme deficiency: Systematic review and case series

Aditya Phadte1, Sneha Arya1, Vijaya Sarathi2

  • 1Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India.

Clinical Endocrinology
|November 10, 2022
PubMed
Summary

P450 side-chain cleavage deficiency (SCCD) in 46,XY individuals presents with distinct gonadal outcomes based on external genitalia presentation. Specific genotypes correlate with typical male genitalia and better pubertal development in SCCD patients.

Keywords:
gonadal functionnovel mutationside-chain cleavage enzyme deficiencytesticular adrenal rest tumours

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