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The hypergonadotropic hypogonadism conundrum of classic galactosemia.经典半乳糖血症的促性腺激素性性腺功能减退症难题。
Hum Reprod Update. 2023 Mar 1;29(2):246-258. doi: 10.1093/humupd/dmac041.
2
Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.人类代谢中的半乳糖、糖基化和先天性代谢疾病：是时候仔细研究一下了。
Biochim Biophys Acta Gen Subj. 2021 Aug;1865(8):129898. doi: 10.1016/j.bbagen.2021.129898. Epub 2021 Apr 18.
3
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.经典型半乳糖血症的深度表型分析：临床结局和生化标志物
Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020.
4
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.遗传性半乳糖血症的病理生理学和治疗靶点：动物和细胞模型的系统评价。
J Inherit Metab Dis. 2020 May;43(3):392-408. doi: 10.1002/jimd.12202. Epub 2020 Jan 14.
5
The natural history of classic galactosemia: lessons from the GalNet registry.经典半乳糖血症的自然病程：GalNet 注册研究的启示。
Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.
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VarSome: the human genomic variant search engine.VarSome：人类基因组变异搜索引擎。
Bioinformatics. 2019 Jun 1;35(11):1978-1980. doi: 10.1093/bioinformatics/bty897.
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CADD: predicting the deleteriousness of variants throughout the human genome.CADD：预测整个人类基因组中变异的有害性。
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. doi: 10.1093/nar/gky1016.
8
Congenital disorders of glycosylation (CDG): Quo vadis?先天性糖基化障碍（CDG）：何去何从？
Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25.
9
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.经典型半乳糖血症中的骨骼健康：系统评价与荟萃分析。
JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20.
10
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.经典半乳糖血症与先天性糖基化障碍，N-糖基化界面。综述
JIMD Rep. 2017;34:33-42. doi: 10.1007/8904_2016_5. Epub 2016 Aug 9.

三名迟发性经典型半乳糖血症患者的自然病史。

Natural history of three late-diagnosed classic Galactosemia patients.

作者信息

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

机构信息

Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.

Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.

出版信息

Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar.

DOI:10.1016/j.ymgmr.2024.101057
PMID:38469096
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10926220/
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.

摘要

作者报告了三名迟发性经典半乳糖血症（CG）患者（分别为16岁、19岁和28岁）的自然病史。这是多种因素共同作用的结果：缺乏新生儿筛查、缺乏一些典型的急性新生儿症状以及半乳糖血症筛查呈阴性。本报告强调了新生儿筛查的价值以及对于迟发性表现进行进一步诊断检测的重要性。