Generalised uridine diphosphate galactose-4-epimerase deficiency

被引：46

作者：

Walter, JH ^{[1
]}

Roberts, REP

Besley, GTN

Wraith, JE

Cleary, MA

Holton, JB

MacFaul, R

机构：

[1] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 4HA, Lancs, England

[2] Royal Hosp Sick Children, Dept Child Hlth, Bristol BS1 5PZ, Avon, England

[3] Pinderfields Gen Hosp, Wakefield WF1 4DG, W Yorkshire, England

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1999年 / 80卷 / 04期

关键词：

UDP galactose-4-epimerase deficiency; galactosaemia; transferrin isoelectric focusing;

D O I：

10.1136/adc.80.4.374

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features, The two older female patients have normal pubertal development.

引用

页码：374 / 376

页数：3

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