Alkaptonuria

IF 76.9 1区医学 Q1 MEDICINE, GENERAL & INTERNAL

Nature Reviews Disease Primers Pub Date : 2024-03-07 DOI:10.1038/s41572-024-00507-z

引用次数: 0

摘要

本 PrimeView 重点介绍了一种罕见的遗传性代谢性疾病--钾tonuria 的病理生理学，并概述了其流行病学、诊断和管理。它与 Bernardini 等人撰写的有关这一主题的入门文章配套。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Alkaptonuria

This PrimeView highlights the pathophysiology of Alkaptonuria, a rare inherited metabolic disease, and summarizes its epidemiology, diagnosis and management. It accompanies the Primer article on this topic by Bernardini et al.

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来源期刊

Nature Reviews Disease Primers Medicine-General Medicine

CiteScore

76.70

自引率

0.20%

发文量

期刊介绍： Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.