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Prenatal diagnosis of atypical phenylketonuria.

作者信息

Blau N, Niederwieser A, Curtius H C, Kierat L, Leimbacher W, Matasovic A, Binkert F, Lehmann H, Leupold D, Guardamagna O

机构信息

Department of Pediatrics, University of Zurich, Switzerland.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:295-8. doi: 10.1007/BF03335403.

DOI:10.1007/BF03335403
PMID:2480478
Abstract
摘要

相似文献

1
Prenatal diagnosis of atypical phenylketonuria.非典型苯丙酮尿症的产前诊断
J Inherit Metab Dis. 1989;12 Suppl 2:295-8. doi: 10.1007/BF03335403.
2
Determination of monoamines and indoles in amniotic fluid by high-performance liquid chromatography-electrochemical detection.高效液相色谱-电化学检测法测定羊水中的单胺和吲哚
J Chromatogr. 1990 Jun 8;528(1):101-9. doi: 10.1016/s0378-4347(00)82366-x.
3
Free amino acid levels in amniotic fluid of fetuses affected with Lowe's syndrome or Phenylketonuria.患有洛氏综合征或苯丙酮尿症胎儿羊水内的游离氨基酸水平。
Tohoku J Exp Med. 1974 Jun;113(2):169-71. doi: 10.1620/tjem.113.169.
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Simultaneous determination of serotonin, 5-hydroxindoleacetic acid, 3,4-dihydroxyphenylacetic acid and homovanillic acid by high performance liquid chromatography with electrochemical detection.高效液相色谱-电化学检测法同时测定血清素、5-羟吲哚乙酸、3,4-二羟基苯乙酸和高香草酸
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J Chromatogr. 1982 Dec 10;233:69-77. doi: 10.1016/s0378-4347(00)81732-6.
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The concurrent estimation of the major monoamine metabolites in human and non-human primate brain by HPLC with fluorescence and electrochemical detection.
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Present status of the prevention of neural tube defects.神经管缺陷预防的现状
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Progress in the identification of the heterozygote in phenylketonuria.
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Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.人羊水氨基酸浓度的发育变化：母体苯丙酮尿症的异常发现
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Diagnostic uses of amniocentesis in late pregnancy.妊娠晚期羊膜腔穿刺术的诊断用途。
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引用本文的文献

1
Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects.7例6-丙酮酰四氢蝶呤合酶缺乏症的产前诊断
J Inherit Metab Dis. 1994;17(1):163-6. doi: 10.1007/BF00735427.
2
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
J Inherit Metab Dis. 1990;13(6):879-82. doi: 10.1007/BF01800213.

本文引用的文献

1
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症：通过干血斑酶测定进行诊断。
Pediatrics. 1982 Sep;70(3):426-30.
2
Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria.苯丙酮尿症一种变异形式——“二氢生物蝶呤合成酶”缺乏症的产前诊断
Eur J Pediatr. 1986 Aug;145(3):176-8. doi: 10.1007/BF00446058.
3
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.
蝶酰丙氨酸、脱氨蝶酰丙氨酸和6-氧代蝶酰丙氨酸，在一名高苯丙氨酸血症患者中鉴定出的三种新的7-取代蝶呤。
Biochem Biophys Res Commun. 1988 Jun 16;153(2):715-21. doi: 10.1016/s0006-291x(88)81153-7.
4
Tetrahydrobiopterin biosynthetic pathway and deficiency.四氢生物蝶呤生物合成途径与缺乏症。
Enzyme. 1987;38(1-4):302-11. doi: 10.1159/000469220.
5
Inborn errors of pterin metabolism.
Annu Rev Nutr. 1988;8:185-209. doi: 10.1146/annurev.nu.08.070188.001153.