Natural history of three late-diagnosed classic Galactosemia patients

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-01-23 DOI:10.1016/j.ymgmr.2024.101057

Dulce Quelhas , Sandra D.K. Kingma , An I. Jonckheere , Claudia S. Smeets-Peels , Daniel Costa Gomes , José Duro , Anabela Oliveira , Gert Matthijs , Laura K.M. Steinbusch , Jaak Jaeken , Isabel Rivera , Estela Rubio-Gozalbo

引用次数: 0

Abstract

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

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三位晚期诊断的典型半乳糖血症患者的自然病史

作者报告了三名晚期确诊的典型半乳糖血症（CG）患者（16、19 和 28 岁）的自然病史。这是由多种因素造成的：没有进行新生儿筛查、没有一些典型的急性新生儿症状以及半乳糖血症筛查阴性。这份报告强调了新生儿筛查的价值，以及在出现晚期表现时进行进一步诊断测试的重要性。

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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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.