Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.

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作者信息

Candito M, Vianey-Saban C, Ferraci J P, Bébin B, Chazalette J P, Sebag F, Mathieu M, Chambon P

机构信息

Laboratoire de Biochimie, Hôpital Pasteur, Nice, France.

出版信息

J Inherit Metab Dis. 1994;17(2):252-3. doi: 10.1007/BF00711632.

DOI:10.1007/BF00711632

PMID:7967486

Abstract

摘要

相似文献

Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.

J Inherit Metab Dis. 1994;17(2):252-3. doi: 10.1007/BF00711632.

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[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]].赖氨酸尿性蛋白不耐受症：继发于L-精氨酸缺乏的严重高氨血症（作者译）

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Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.赖氨酸尿性蛋白不耐受症中血浆精氨酸和鸟氨酸的代谢清除缺陷。

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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.赖氨酸尿性蛋白不耐受患者中模仿系统性红斑狼疮的免疫失调：病例报告及文献综述

Front Pediatr. 2021 May 20;9:673957. doi: 10.3389/fped.2021.673957. eCollection 2021.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.SLC7A7基因结构及赖氨酸尿性蛋白不耐受症患者的突变分析

Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700.

本文引用的文献

[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].[伴有赖氨酸尿症的蛋白质不耐受。乳清酸尿症在调整瓜氨酸治疗中的价值]

Arch Fr Pediatr. 1988 Dec;45(10):809-12.

Carrier detection in ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的携带者检测

J Pediatr. 1978 Jul;93(1):75-8. doi: 10.1016/s0022-3476(78)80606-4.

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