Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

Posset Roland; Koelker Stefan; Gleich Florian; Okun Jurgen G.; Gropman Andrea L.; Nagamani Sandesh C. S.; Scharre Svenja; Probst Joris; Walter Magdalena E.; Hoffmann Georg F.; Garbade Sven F.; Zielonka Matthias

首页> 外文期刊>Molecular genetics and metabolism >Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

【24h】

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

机译：用细胞源尿素周期疾病对新生儿筛查对新生儿筛查的严重程度调整评价

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Objective: The implementation of newborn screening (NBS) programs for citrullinemia type 1 (CTLN1) and argininosuccinic aciduria (ASA) is subject to controversial debate. The aim of this study was to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individuals.

机译：None

著录项

来源
《Molecular genetics and metabolism》 |2020年第4期|共8页
作者
Posset Roland; Koelker Stefan; Gleich Florian; Okun Jurgen G.; Gropman Andrea L.; Nagamani Sandesh C. S.; Scharre Svenja; Probst Joris; Walter Magdalena E.; Hoffmann Georg F.; Garbade Sven F.; Zielonka Matthias;
展开▼
作者单位

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Childrens Natl Hlth Syst Washington DC USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

Univ Hosp Heidelberg Ctr Pediat &

Adolescent Med Div Pediat Neurol &

Metab Med Neuenheimer Feld;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Newborn screening; Citrullinemia type 1; Argininosuccinic aciduria; Metabolic disease course; Hyperammonemia;

机译：新生儿筛选;柑橘绒血症1型;argininosucinic aciduria;代谢疾病课程;高血症;

相似文献

外文文献
中文文献
专利

1. High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel [J] . Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, 世界儿科杂志（英文版） . 2018,第005期
2. High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel [J] . Gwendolyn Gramer1, Junmin Fang-Hoffmann1, Patrik Feyh1, 世界儿科杂志(英文版) . 2018,第005期
3. Newborn screening for remethylation disorders and vitamin deficiency-evaluation of new strategies in cohorts from Qatar and Germany [J] . Gwendolyn Gramer, Jürgen G.Okun, Ghassan Abdoh, 世界儿科杂志（英文版） . 2017,第002期
4. Newborn screening for remethylation disorders and vitamin deficiency-evaluation of new strategies in cohorts from Qatar and Germany [J] . Gwendolyn Gramer1, Ghassan Abdoh2, Tawfeg Ben-Omran2, 世界儿科杂志(英文版) . 2017,第002期
5. On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases [J] . Summar Marshall L., Endo Fumio, Koelker Stefan Molecular genetics and metabolism . 2014,第1a2期

机译：关于罕见病研究网络的创建，效用和维持：从尿素循环紊乱协会，日本尿素循环紊乱协会以及欧洲中毒型代谢性疾病注册和网络中吸取的教训
6. Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening [J] . Merritt J. Lawrence II, Brody Linnea L., Pino Gisele, Molecular genetics and metabolism . 2018,第2期

机译：新生儿筛查近端尿素周期疾病：目前证据支持新生儿筛查的建议
7. The role of orotic acid measurement in routine newborn screening for urea cycle disorders [J] . Staretz-Chacham Orna, Daas Suha, Ulanovsky Igor, Journal of inherited metabolic disease . 2021,第3期

机译：Orotic酸测量在常规新生儿筛查中的作用尿素周期疾病
8. Optimization of laboratory MS/MS newborn screening of inherited metabolic diseases [C] . Josef Bartl, Petr Chrastina, Jakub Hodik, International Mass Spectrometry Conference . 2014

机译：优化实验室MS / MS新生儿筛查遗传性代谢疾病
9. Evaluating the "Sensitivity and Specificity" of the Newborn Screening Debate: How Tradeoffs between Population and Individual Benefit are shaping the Conversation between Public Health and Genetic Advocates. [D] . Hawthorne, Megan. 2014

机译：评价新生儿筛查辩论的“敏感性和特异性”：人口与个人利益之间的权衡如何影响公共卫生与遗传倡导者之间的对话。
10. On the Creation Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases [O] . Marshall L. Summar, Fumio Endo, Stefan Kölker -1

机译：关于罕见病研究网络的创建效用和维持：从尿素循环紊乱协会日本尿素循环紊乱协会以及欧洲中毒型代谢性疾病登记和网络中吸取的教训
11. Newborn screening for urea cycle disorders in Portugal [O] . Rocha Hugo, Sousa Carmen, Fonseca Helena, 2016

机译：在葡萄牙进行新生儿尿素循环系统疾病筛查
12. Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants. Clinical Practice Guideline Number 6; Sickle Cell Disease: Comprehensive Screening and Management in Newborns and Infants. Quick Reference Guide for Clinicians Number 6; Sickle Cell Disease in Newborns and Infants. A Guide for Parents [R] . 1993

机译：镰状细胞病：新生儿和婴儿的筛查，诊断，管理和咨询。临床实践指南第6号;镰状细胞病：新生儿和婴儿的综合筛查和管理。第6号临床医生快速参考指南;新生儿和婴儿的镰状细胞病。家长指南

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

摘要

著录项

相似文献

相关主题

期刊订阅