Diagnosis of malignant hyperphenylalaninaemia.
作者信息
Danks D M, Cotton R G, Schlesinger P
出版信息
Arch Dis Child. 1979 May;54(5):329-30. doi: 10.1136/adc.54.5.329.
Abstract
摘要
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Diagnosis of malignant hyperphenylalaninaemia.恶性高苯丙氨酸血症的诊断。
Arch Dis Child. 1979 May;54(5):329-30. doi: 10.1136/adc.54.5.329.
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Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.高苯丙氨酸血症中四氢生物蝶呤反应性的分类
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Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.通过苯丙氨酸-四氢生物蝶呤联合负荷试验对高苯丙氨酸血症进行鉴别诊断。
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Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".足月苯丙酮尿症胎儿的脐血酪氨酸水平与“合理性假说”
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本文引用的文献
1
Phenylketonuria due to a deficiency of dihydropteridine reductase.由于二氢蝶啶还原酶缺乏所致的苯丙酮尿症。
N Engl J Med. 1975 Oct 16;293(16):785-90. doi: 10.1056/NEJM197510162931601.
2
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.因二氢生物蝶呤生物合成缺陷所致非典型苯丙酮尿症的四氢生物蝶呤治疗
Arch Dis Child. 1978 Aug;53(8):674-6. doi: 10.1136/adc.53.8.674.
3
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.尿中二羟蝶呤在恶性高苯丙氨酸血症和苯丙酮尿症诊断中的应用
Clin Chim Acta. 1979 Mar 1;92(2):187-95. doi: 10.1016/0009-8981(79)90113-x.
4
Malignant hyperphenylalaninaemia--current status (June 1977).恶性高苯丙氨酸血症——当前状况（1977年6月）
J Inherit Metab Dis. 1978;1(2):49-53. doi: 10.1007/BF01801843.
5
Pteridines and phenylketonuria: report of a workshop: Introductory comments.蝶啶与苯丙酮尿症：研讨会报告：引言评论
J Inherit Metab Dis. 1978;1(2):47-8.
6
Letter: Variant forms of phenylketonuria.信函：苯丙酮尿症的变异形式。
Lancet. 1976 Jun 5;1(7971):1236-7. doi: 10.1016/s0140-6736(76)92179-6.
7
Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity.信件：苯丙氨酸羟化酶活性正常的苯丙酮尿症患者的左旋多巴和5-羟色氨酸治疗
Lancet. 1975 Nov 22;2(7943):1042-3. doi: 10.1016/s0140-6736(75)90334-7.
8
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
Lancet. 1975 May 17;1(7916):1108-11. doi: 10.1016/s0140-6736(75)92498-8.
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A disorder of biogenic amines in dihydropteridine reductase deficiency.二氢蝶啶还原酶缺乏症中的生物胺紊乱。
Ann Neurol. 1978 Mar;3(3):224-30. doi: 10.1002/ana.410030307.
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