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HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".

作者信息

EFRON M L, BIXBY E M, PRYLES C V

出版信息

N Engl J Med. 1965 Jun 24;272:1299-309. doi: 10.1056/NEJM196506242722501.

DOI:10.1056/NEJM196506242722501
PMID:14299138
Abstract
摘要

相似文献

1
HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".羟脯氨酸血症。II. 一种因“羟脯氨酸氧化酶”缺乏引起的罕见代谢性疾病。
N Engl J Med. 1965 Jun 24;272:1299-309. doi: 10.1056/NEJM196506242722501.
2
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.家族性高脯氨酸血症。第二例报告，伴有先天性肾畸形、遗传性血尿和轻度智力发育迟缓，并证实存在酶缺陷。
N Engl J Med. 1965 Jun 17;272:1243-54. doi: 10.1056/NEJM196506172722401.
3
Genetic cause and prevalence of hydroxyprolinemia.羟脯氨酸血症的遗传病因及患病率
J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2.
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A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.一种用于检测氨基酸代谢紊乱的简单色谱筛查试验。一种使用滤纸采集的全血或尿液的技术。
N Engl J Med. 1964 Jun 25;270:1378-83. doi: 10.1056/NEJM196406252702602.
5
HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.同型胱氨酸尿症：10例临床与病理回顾
J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.
6
Hydroxyproline metabolism in two sisters with hydroxyprolinemia.两名患有羟脯氨酸血症的姐妹的羟脯氨酸代谢情况
Hum Hered. 1979;29(6):364-70. doi: 10.1159/000153074.
7
Hydroxyprolinemia: comparison of a patient and her unaffected twin sister.
J Pediatr. 1997 Mar;130(3):437-41. doi: 10.1016/s0022-3476(97)70207-5.
8
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.两例组氨酸血症的临床与生化研究
Pediatrics. 1963 Aug;32:216-27.
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HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS.高脯氨酸血症与遗传性肾炎。
Lancet. 1964 Nov 21;2(7369):1075-9. doi: 10.1016/s0140-6736(64)92605-4.
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A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID.一种伴有智力和身体发育迟缓的性连锁疾病，其特征为大脑皮质萎缩和脑脊液中谷氨酸增加。
Tohoku J Exp Med. 1964 Aug 25;83:261-9. doi: 10.1620/tjem.83.261.

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2
RNA interference in the treatment of renal stone disease: Current status and future potentials.RNA 干扰在肾结石病治疗中的应用：现状与未来潜力。
Int J Surg. 2016 Dec;36(Pt D):713-716. doi: 10.1016/j.ijsu.2016.11.027. Epub 2016 Nov 12.
3
Genetic cause and prevalence of hydroxyprolinemia.羟脯氨酸血症的遗传病因及患病率
J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2.
4
Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase.原发性高草酸尿症小鼠模型中（13）C5-羟脯氨酸的代谢及其受靶向肝脏乙醇酸氧化酶和羟脯氨酸脱氢酶的RNAi疗法的抑制作用
Biochim Biophys Acta. 2016 Feb;1862(2):233-9. doi: 10.1016/j.bbadis.2015.12.001. Epub 2015 Dec 2.
5
Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.脯氨酸脱氢酶2（PRODH2）是一种羟脯氨酸脱氢酶（HYPDH），也是治疗原发性高草酸尿症的分子靶点。
Biochem J. 2015 Mar 1;466(2):273-81. doi: 10.1042/BJ20141159.
6
A conserved active site tyrosine residue of proline dehydrogenase helps enforce the preference for proline over hydroxyproline as the substrate.脯氨酸脱氢酶中一个保守的活性位点酪氨酸残基有助于强化脯氨酸脱氢酶对脯氨酸而非羟脯氨酸作为底物的偏好。
Biochemistry. 2009 Feb 10;48(5):951-9. doi: 10.1021/bi802094k.
7
Hydroxyprolinaemia with normal development.发育正常的羟脯氨酸血症
Arch Dis Child. 1980 Jun;55(6):484-6. doi: 10.1136/adc.55.6.484.
8
Urinary screening tests in the prevention of mental deficiency.预防智力缺陷的尿液筛查试验。
Can Med Assoc J. 1966 Jul 16;95(3):89-95.
9
The quantitative relationship of urinary peptide hydroxyproline excretion to collagen degradation.尿肽羟脯氨酸排泄与胶原蛋白降解的定量关系。
J Clin Invest. 1969 Jan;48(1):1-10. doi: 10.1172/JCI105957.
10
[The behavior of the "collagen-like protein" in serum of patients with seleroderma before and following treatment with gestagens].[硬皮病患者血清中“类胶原蛋白”在用孕激素治疗前后的表现]
Arch Klin Exp Dermatol. 1967;230(1):69-83.