氨甲酰谷氨酸在氨甲酰磷酸合成酶缺乏症中的治疗应用。 - Suppr

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超能文献

Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.

作者信息

Kuchler G, Rabier D, Poggi-Travert F, Meyer-Gast D, Bardet J, Drouin V, Cadoudal M, Saudubray J M

机构信息

Department of General Pediatrics, University of Heidelberg, Germany.

出版信息

J Inherit Metab Dis. 1996;19(2):220-2. doi: 10.1007/BF01799434.

DOI:10.1007/BF01799434

PMID:8739970

Abstract

摘要

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Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.氨甲酰谷氨酸在氨甲酰磷酸合成酶缺乏症中的治疗应用。

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A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.鼠的氨基甲酰磷酸合成酶 1 的组成型敲除导致明显的高血氨症和高血氨血症，并伴有死亡。

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Transient hyperammonemias in infants with and without organic acidemia.患有和未患有有机酸血症的婴儿的短暂高氨血症

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Severe neonatal deficiency of carbamylphosphate synthetase.严重的新生儿氨基甲酰磷酸合成酶缺乏症。

Acta Paediatr Belg. 1977 Jul-Sep;30(3):151-5.

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Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.罕见病中的精准医学：N-氨甲酰-L-谷氨酸对突变型CPS1酶不同作用的机制

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Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder.假设：关于因尿素循环障碍而有高氨血症风险的新生儿管理建议。

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本文引用的文献

Catalytic rôle of of glutamate derivatives in citrulline biosynthesis.谷氨酸衍生物在瓜氨酸生物合成中的催化作用。需注意，原文中“of of”表述有误，正确的应该是“of” 。

J Biol Chem. 1953 Oct;204(2):753-7.

A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

J Inherit Metab Dis. 1995;18(1):61-5. doi: 10.1007/BF00711374.

Conditions affecting the colorimetry of orotic acid and orotidine in urine.影响尿液中乳清酸和乳清苷比色法测定的因素

Clin Chem. 1980 Mar;26(3):473-9.

N-Acetylglutamate synthetase: enzyme assay in human liver.N-乙酰谷氨酸合成酶：人肝脏中的酶活性测定

J Clin Chem Clin Biochem. 1982 May;20(5):325-9. doi: 10.1515/cclm.1982.20.5.325.

Ammonia intoxication in rats: protection by N-carbamoyl-L-glutamate plus L-arginine.大鼠氨中毒：N-氨甲酰-L-谷氨酸加L-精氨酸的保护作用

Proc Natl Acad Sci U S A. 1972 Dec;69(12):3530-3. doi: 10.1073/pnas.69.12.3530.

Acute and chronic effects of carbamyl glutamate on blood urea and ammonia.

Eur J Pediatr. 1985 Jan;143(3):196-7. doi: 10.1007/BF00442137.

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.鸟氨酸氨甲酰基转移酶缺乏症。一种酶活性低于正常水平的新变异型。

Clin Chim Acta. 1989 Dec 29;186(1):25-9. doi: 10.1016/0009-8981(89)90199-x.

N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.N-乙酰谷氨酸合成酶缺乏症：一种罕见的氨解毒障碍疾病的诊断、管理及随访

Eur J Pediatr. 1991 Mar;150(5):353-6. doi: 10.1007/BF01955939.

Deacylation and transacetylation of acetyl glutamate and acetyl ornithine in rat liver.大鼠肝脏中乙酰谷氨酸和乙酰鸟氨酸的脱酰基作用及转乙酰基作用

FEBS Lett. 1977 Sep 1;81(1):13-7. doi: 10.1016/0014-5793(77)80917-4.

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