Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carntine analysis of a 12-year-old newborn screening card

被引：9

作者：

Poplawski, NK ^{[1
]}

Ranieri, E ^{[1
]}

Harrison, JR ^{[1
]}

Fletcher, JM ^{[1
]}

机构：

[1] Womens & Childrens Hosp, Dept Chem Pathol, N Adelaide, SA, Australia

来源：

JOURNAL OF PEDIATRICS | 1999年 / 134卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(99)70295-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a family who experienced an unexplained neonatal death. Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry.

引用

页码：764 / 766

页数：3

共 8 条

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