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Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.

作者信息

Kelley R I

机构信息

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.

出版信息

J Inherit Metab Dis. 1993;16(5):918-9. doi: 10.1007/BF00714302.

DOI:10.1007/BF00714302
PMID:8295422
Abstract
摘要

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引用本文的文献

1
Prenatal diagnosis of Canavan disease--problems and dilemmas.
J Inherit Metab Dis. 1999 May;22(3):263-6. doi: 10.1023/a:1005534105933.
2
Biochemistry and molecular biology of Canavan disease.卡纳万病的生物化学与分子生物学
Neurochem Res. 1999 Apr;24(4):507-13. doi: 10.1023/a:1022531829100.
3
Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.卡纳万病。对导致所观察到的临床症状发展的代谢性病变性质的分析。

本文引用的文献

1
Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.采用同位素稀释气相色谱-质谱法对尿液中的N-乙酰-L-天冬氨酸进行定量分析。
J Inherit Metab Dis. 1992;15(1):97-104. doi: 10.1007/BF01800351.
2
Prenatal diagnosis of Canavan disease.
Eur J Pediatr. 1992 Aug;151(8):620. doi: 10.1007/BF01957737.
3
Prenatal diagnosis of Canavan disease.
J Inherit Metab Dis. 1992;15(3):392-4. doi: 10.1007/BF02435985.
J Mol Neurosci. 1997 Oct;9(2):109-25. doi: 10.1007/BF02736855.
4
Prenatal diagnosis for Canavan disease: the use of DNA markers.
J Inherit Metab Dis. 1995;18(2):215-7. doi: 10.1007/BF00711770.