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I型遗传性酪氨酸血症:11例病例报告

Type I hereditary tyrosinaemia: presentation of 11 cases.

作者信息

Coşkun T, Ozalp I, Koçak N, Yüce A, Caglar M, Berger R

机构信息

Department of Pediatric Metabolism, Hacettepe University, Ankara, Turkey.

出版信息

J Inherit Metab Dis. 1991;14(5):765-70. doi: 10.1007/BF01799947.

DOI:10.1007/BF01799947
PMID:1664010
Abstract

Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia.

摘要

提供诊断信息以早期检测I型酪氨酸血症的亚急性和慢性形式。

相似文献

1
Type I hereditary tyrosinaemia: presentation of 11 cases.I型遗传性酪氨酸血症:11例病例报告
J Inherit Metab Dis. 1991;14(5):765-70. doi: 10.1007/BF01799947.
2
Tyrosinaemia type I with normal levels of plasma tyrosine.血浆酪氨酸水平正常的I型酪氨酸血症
J Inherit Metab Dis. 1990;13(3):305-7. doi: 10.1007/BF01799381.
3
Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem.I型酪氨酸血症:原位肝移植是解决代谢及肿瘤问题的唯一确切办法。
J Inherit Metab Dis. 1989;12 Suppl 2:339-42. doi: 10.1007/BF03335416.
4
Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.
Lancet. 1985 Mar 2;1(8427):527. doi: 10.1016/s0140-6736(85)92132-4.
5
Liver transplantation in tyrosinaemia type 1: the dilemma of timing the operation.1型酪氨酸血症的肝移植:手术时机的困境
Acta Paediatr. 1992 May;81(5):449-52. doi: 10.1111/j.1651-2227.1992.tb12270.x.
6
[Tyrosinosis. A difficult diagnosis of late infancy].[酪氨酸血症。晚期婴儿期的疑难诊断]
Minerva Pediatr. 1990 Jan-Feb;42(1-2):1-7.
7
Hereditary tyrosinemia. 3. On the differential diagnosis and the lack of effect of early dietary treatment.
Acta Paediatr Scand. 1969 Jan;58(1):37-48. doi: 10.1111/j.1651-2227.1969.tb04327.x.
8
Hepatic imaging with computed tomography of chronic tyrosinaemia type 1.1型慢性酪氨酸血症的肝脏计算机断层扫描成像
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Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver.遗传性I型酪氨酸血症(慢性型):肝脏的病理表现
Hum Pathol. 1989 Feb;20(2):149-58. doi: 10.1016/0046-8177(89)90179-2.
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The enzyme defects in hereditary tyrosinaemia type I.
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Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).尼替西农治疗1型遗传性酪氨酸血症(HT-1)的临床效用。
Appl Clin Genet. 2017 Jul 24;10:43-48. doi: 10.2147/TACG.S113310. eCollection 2017.
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.168例肝肾型酪氨酸血症患者的横断面研究及其对临床实践的意义。
Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.
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The little imitator--porphyria: a neuropsychiatric disorder.小模仿者——卟啉病:一种神经精神障碍。

本文引用的文献

1
STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.酪氨酸血症研究:1. 低酪氨酸和低苯丙氨酸饮食的影响
Br Med J. 1964 Nov 7;2(5418):1171-3. doi: 10.1136/bmj.2.5418.1171.
2
The chemical estimation of tyrosine and tyramine.酪氨酸和酪胺的化学测定
J Biol Chem. 1952 May;196(1):227-33.
3
Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia.遗传性酪氨酸血症患者淋巴细胞和成纤维细胞中富马酰乙酰乙酸富马酰水解酶活性缺乏。
J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):319-28. doi: 10.1136/jnnp.62.4.319.
4
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.两个错义突变导致1型酪氨酸血症,伴有或不伴有免疫反应性延胡索酰乙酰乙酸酶。
Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558.
5
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.富马酰乙酰乙酸酯酶基因中的新型剪接、错义及无义突变导致1型酪氨酸血症。
Am J Hum Genet. 1994 Oct;55(4):653-8.
Pediatr Res. 1983 Jul;17(7):541-4. doi: 10.1203/00006450-198307000-00005.
4
Experience with 37 infants with tyrosinemia.37例酪氨酸血症婴儿的病例经验。
Can Med Assoc J. 1967 Oct 28;97(18):1051-4.
5
Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.遗传性酪氨酸血症和酪氨酸尿症:4例患者的临床报告
Can Med Assoc J. 1967 Oct 28;97(18):1047-50.
6
Dietary treatment of tyrosinosis.酪氨酸血症的饮食治疗。
Am J Dis Child. 1967 Jan;113(1):38-40. doi: 10.1001/archpedi.1967.02090160088007.
7
Long-term dietary treatment of tyrosinosis.酪氨酸血症的长期饮食治疗。
J Pediatr. 1968 May;72(5):620-7. doi: 10.1016/s0022-3476(68)80004-6.
8
Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature.酪氨酸血症初始诊断中的陷阱:三例病例报告及文献综述
Clin Biochem. 1987 Jun;20(3):207-12. doi: 10.1016/s0009-9120(87)80122-4.
9
[Tyrosinosis. A difficult diagnosis of late infancy].[酪氨酸血症。晚期婴儿期的疑难诊断]
Minerva Pediatr. 1990 Jan-Feb;42(1-2):1-7.
10
Neurologic crises in hereditary tyrosinemia.遗传性酪氨酸血症中的神经危机
N Engl J Med. 1990 Feb 15;322(7):432-7. doi: 10.1056/NEJM199002153220704.