5-氧脯氨酸酶缺乏症与严重精神运动发育迟缓、生长发育不良、小头畸形和小细胞贫血相关。 - Suppr

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超能文献

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.

作者信息

Mayatepek E, Hoffmann G F, Larsson A, Becker K, Bremer H J

机构信息

Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.

出版信息

J Inherit Metab Dis. 1995;18(1):83-4. doi: 10.1007/BF00711382.

DOI:10.1007/BF00711382

PMID:7542714

Abstract

摘要

相似文献

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.5-氧脯氨酸酶缺乏症与严重精神运动发育迟缓、生长发育不良、小头畸形和小细胞贫血相关。

J Inherit Metab Dis. 1995;18(1):83-4. doi: 10.1007/BF00711382.

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.五名因谷胱甘肽合成酶和5-氧脯氨酸酶缺乏而患5-氧脯氨酸尿症的中国患者。

Brain Dev. 2015 Nov;37(10):952-9. doi: 10.1016/j.braindev.2015.03.005. Epub 2015 Apr 4.

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.一名8岁发育迟缓儿童的5-氧脯氨酸酶缺乏症。

J Inherit Metab Dis. 1996;19(3):367-8. doi: 10.1007/BF01799269.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.双等位基因OPLAH突变导致的5-氧脯氨酸尿症（焦谷氨酸尿症）解析：14个家系中的20个新突变

Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22.

5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.与5-氧脯氨酸酶缺乏相关的5-氧脯氨酸尿症；进一步证明这是一种良性疾病。

J Inherit Metab Dis. 1993;16(6):1051-2. doi: 10.1007/BF00711529.

Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.

J Inherit Metab Dis. 2001 Jun;24(3):404-6. doi: 10.1023/a:1010569021839.

5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.两兄弟因遗传性5-氧脯氨酸酶缺乏导致5-氧脯氨酸尿症——γ-谷氨酰循环中的一种新的先天性代谢缺陷。

Acta Paediatr Scand. 1981;70(3):301-8. doi: 10.1111/j.1651-2227.1981.tb16556.x.

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.杂合性 RNF13 功能获得性变异与先天性小头畸形、癫痫性脑病、失明和生长发育迟缓有关。

Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27.

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency.两名兄弟姐妹出现生长发育迟缓、脑病和内分泌功能障碍，其中一名患有5-氧脯氨酸酶缺乏症。

Eur J Pediatr. 1997 Dec;156(12):935-8. doi: 10.1007/s004310050746.

5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.γ-谷氨酰循环有缺陷和无缺陷患者的5-氧脯氨酸尿症

Eur J Pediatr. 1999 Mar;158(3):221-5. doi: 10.1007/s004310051054.

引用本文的文献

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?5-氧脯氨酸酶缺乏症仅仅是一种良性病症吗？

Mol Syndromol. 2024 Aug;15(4):303-310. doi: 10.1159/000536295. Epub 2024 Feb 23.

The 5-oxoprolinase is required for conidiation, sexual reproduction, virulence and deoxynivalenol production of Fusarium graminearum.5-氧脯氨酸酶是禾谷镰刀菌产孢、有性生殖、致病性和脱氧雪腐镰刀菌烯醇产生所必需的。

Curr Genet. 2018 Feb;64(1):285-301. doi: 10.1007/s00294-017-0747-y. Epub 2017 Sep 16.

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.对5-氧脯氨酸酶缺乏症遗传学的新见解以及进一步证明其为良性生化状况的证据。

Eur J Pediatr. 2015 Mar;174(3):407-11. doi: 10.1007/s00431-014-2397-0. Epub 2014 Aug 17.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.5-氧脯氨酸酶（OPLAH）错义突变杂合患者的5-氧脯氨酸尿症

JIMD Rep. 2013;7:123-8. doi: 10.1007/8904_2012_166. Epub 2012 Jul 6.

Inborn errors in the metabolism of glutathione.谷胱甘肽代谢的先天性缺陷。

Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16.

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.一名8岁发育迟缓儿童的5-氧脯氨酸酶缺乏症。

J Inherit Metab Dis. 1996;19(3):367-8. doi: 10.1007/BF01799269.

本文引用的文献

J Inherit Metab Dis. 1993;16(6):1051-2. doi: 10.1007/BF00711529.

Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.无谷胱甘肽合成酶缺乏且焦谷氨酸水解酶活性降低的焦谷氨酸尿症（5-氧脯氨酸尿症）

J Inherit Metab Dis. 1981;4(2):89-90. doi: 10.1007/BF02263605.

Acta Paediatr Scand. 1981;70(3):301-8. doi: 10.1111/j.1651-2227.1981.tb16556.x.

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