Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

被引：9

作者：

Baykal, T

Karaaslan, I

Gokcay, G

Demir, F

Laleli, Y

Demirkol, M

机构：

[1] Istanbul Univ, Istanbul Fac Med, Childrens Hosp, Dept Nutr & Metab, Istanbul, Turkey

[2] Duzen Labs, Istanbul, Turkey

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2004年 / 27卷 / 06期

关键词：

D O I：

10.1023/B:BOLI.0000045839.08631.9d

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry.

引用

页码：781 / 782

页数：2