Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.

导出 LinkOut

翻译打印收藏纠错

第一作者： Christina,Kaufman

第一单位： Division of Metabolism and Children`s Research Center, University Children's Hospital Zurich, Lenggstr. 30, 8008, Zurich, Switzerland.

作者： Christina,Kaufman ^[1] ; Anaïs,D'Andrea ^[1] ; Annette,Hackenberg ^[2] ; Martin,Poms ^[3] ; Olivier,Braissant ^[4] ; Johannes,Häberle ^[5]

作者单位： Division of Metabolism and Children`s Research Center, University Children's Hospital Zurich, Lenggstr. 30, 8008, Zurich, Switzerland. ^[1] Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland. ^[2] Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland. ^[3] Service of Clinical Chemistry, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland. ^[4] Division of Metabolism and Children`s Research Center, University Children's Hospital Zurich, Lenggstr. 30, 8008, Zurich, Switzerland. Johannes.haeberle@kispi.uzh.ch. ^[5]

关键词 Cerebral creatine deficiency Cognitive impairment Diagnostic delay Expressive speech delay Global developmental delay Substitution therapy

DOI 10.1186/s40348-024-00188-4

PMID 39838169

发布时间 2025-01-21

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Molecular and cellular pediatrics

2025年12卷1期

1页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.

Molecular and cellular pediatrics

相似文献

Molecular and cellular pediatrics

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.

Molecular and cellular pediatrics

相似文献

Molecular and cellular pediatrics

相关期刊

检索历史清除