Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
作者信息
Hyland K, Smith I, Leonard J V
出版信息
J Neurol Neurosurg Psychiatry. 1987 Feb;50(2):242. doi: 10.1136/jnnp.50.2.242.
Abstract
摘要
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Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
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本文引用的文献
1
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Pediatrics. 1980 Apr;65(4):806-10.
2
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Arch Dis Child. 1984 Jan;59(1):58-61. doi: 10.1136/adc.59.1.58.
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Impaired neurotransmitter amine metabolism in arginase deficiency.
J Neurol Neurosurg Psychiatry. 1985 Nov;48(11):1188-9. doi: 10.1136/jnnp.48.11.1188-a.
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Neurological aspects of biopterin metabolism.
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Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.
J Inherit Metab Dis. 1985;8(1):5-8. doi: 10.1007/BF01805473.
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Arginase deficiency and phenylketonuria.
J Neurol Neurosurg Psychiatry. 1986 Sep;49(9):1090. doi: 10.1136/jnnp.49.9.1090.
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Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection.
J Chromatogr. 1986 Sep 5;381(2):285-94. doi: 10.1016/s0378-4347(00)83594-x.
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