Tratamiento rehabilitador en un paciente con citrulinemia tipo I asociada a deficiencia de beta-ureidopropionasa, primer caso reportado

Author:

López Hernandez P.A.,Hernández García M.,Ramirez Castillo A.,Bezares Reyes S.,Mantilla Capacho J.

Publisher

Elsevier BV

Reference10 articles.

1. Early prediction of phenotypic severity in Citrullinemia Type 1;Zielonka;Ann Clin Transl Neurol,2019

2. Hypomorphic citrullinaemia due to [4] mutated ASS1 with episodic ataxia;Saini;BMJ Case Rep,2018

3. Familias GA | Defectos del Ciclo de la Urea. Familias GA | Asociación de apoyo mutuo de familiares y afectados por Aciduria Glutárica Tipo 1 y 2 [accessed 20 Jul 2023] Available from: https://www.familiasga.com/defectos-del-ciclo-de-la-urea/

4. beta-Ureidopropionase deficiency: An inborn error of pyrimidine degradation associated with neurological abnormalities;van Kuilenburg;Hum Mol Genet,2004

5. Beta-ureidopropionase deficiency: MedlinePlus Genetics. MedlinePlus - Health Information from the National Library of Medicine [accessed 13 Jul 2023] Available from: https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency/#references. 2023

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3