从皮肤病变到酪氨酸血症 II 型诊断。

IF 4.2 2区医学 Q1 ENDOCRINOLOGY & METABOLISM

Journal of Inherited Metabolic Disease Pub Date : 2024-02-26 DOI:10.1002/jimd.12720

Inês S. F. da Silva, Inês Sopa, Daniel Gomes, Lígia Peixoto, Anabela Oliveira

引用次数: 0

摘要

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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From skin lesions to tyrosinemia type II diagnosis

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来源期刊

Journal of Inherited Metabolic Disease 医学-内分泌学与代谢

CiteScore

9.50

自引率

7.10%

发文量

117

审稿时长

4-8 weeks

期刊介绍： The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).