Natural history of three late-diagnosed classic Galactosemia patients

被引：0

作者：

Quelhas, Dulce ^{[1
,2
,3
]}

Kingma, Sandra D. K. ^{[4
,5
]}

Jonckheere, An I. ^{[5
]}

Smeets-Peels, Claudia S. ^{[6
]}

Gomes, Daniel Costa ^{[7
]}

Duro, Jose ^{[7
]}

Oliveira, Anabela ^{[7
]}

Matthijs, Gert ^{[8
]}

Steinbusch, Laura K. M. ^{[9
]}

Jaeken, Jaak ^{[10
,12
]}

Rivera, Isabel ^{[11
]}

Rubio-Gozalbo, Estela ^{[4
,9
]}

机构：

[1] Ctr Hosp Univ Santo Antonio, Ctr Genet Med, Unidade Bioquim Genet, Porto, Portugal

[2] UP, ICBAS, Unit Multidisciplinary Res Biomed, Porto, Portugal

[3] Ctr Hosp Univ Santo Antonio, Ctr Referencia Doencas Hereditarias Metab, Porto, Portugal

[4] Maastricht Univ, Mosakids Childrens Hosp, Med Ctr, Maastricht, Netherlands

[5] Univ Antwerp, Univ Hosp Antwerp, Ctr Metab Dis, Antwerp, Belgium

[6] Stichting Pergamijn, Sittard, Netherlands

[7] Ctr Hosp Univ Lisboa Norte, Ctr Referencia Doencas Hereditarias Metab, Lisbon, Portugal

[8] Katholieke Univ Leuven, Ctr Human Genet, Lab Mol Diag, B-3000 Leuven, Belgium

[9] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[10] Katholieke Univ Leuven, Ctr Metab Dis, Dept Dev & Regenerat, Woman & Child Unit, Leuven, Belgium

[11] Univ Lisbon, Res Inst Med iMed ULisboa, Fac Pharm, Dept Pharmaceut Sci & Med, Lisbon, Portugal

[12] Univ Hosp Gasthuisberg, Ctr Metab Dis, Herestr 49, B-3000 Leuven, Belgium

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2024年 / 38卷

关键词：

Classic galactosemia; Late diagnosis; Natural history; N-GLYCANS;

D O I：

10.1016/j.ymgmr.2024.101057

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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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页数：5

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