Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Author:

Keller Mareike1,Brennenstuhl Heiko1ORCID,Kuseyri Hübschmann Oya1,Manti Filippo2,Julia Palacios Natalia Alexandra3,Friedman Jennifer4,Yıldız Yılmaz5,Koht Jeanette Aimee6,Wong Suet‐Na7,Zafeiriou Dimitrios I.8,López‐Laso Eduardo9,Pons Roser10,Kulhánek Jan11,Jeltsch Kathrin1,Serrano‐Lomelin Jesus12,Garbade Sven F.113,Opladen Thomas1,Goez Helly14,Burlina Alberto15,Cortès‐Saladelafont Elisenda316,Fernández Ramos Joaquín Alejandro9,García‐Cazorla Angeles3,Hoffmann Georg F.1,Kiat Hong Stacey Tay17,Honzík Tomáš11,Kavecan Ivana18,Kurian Manju A.19,Leuzzi Vincenzo2,Lücke Thomas20,Manzoni Francesca15,Mastrangelo Mario2,Mercimek‐Andrews Saadet2122,Mir Pablo23,Oppebøen Mari24,Pearson Toni S.25,Sivri H. Serap5,Steel Dora19,Stevanović Galina26,Fung Cheuk‐Wing7,

Affiliation:

1. Division of Child Neurology and Metabolic Medicine University Children's Hospital Heidelberg Heidelberg Germany

2. Department of Human Neuroscience Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza Rome Italy

3. Inborn errors of metabolism Unit, Department of Neurology Institut de Recerca Sant Joan de Déu and CIBERER‐ISCIII Barcelona Spain

4. UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine San Diego California USA

5. Hacettepe University, Faculty of Medicine, Department of Pediatrics Section of Pediatric Metabolism Ankara Turkey

6. Department of Neurology Oslo University Hospital Oslo Norway

7. Department of Pediatrics and Adolescent Medicine The Hong Kong Children's Hospital Hong Kong Hong Kong

8. First Department of Pediatrics Aristotle University of Thessaloniki Thessaloniki Greece

9. Pediatric Neurology Unit, Department of Pediatrics University Hospital Reina Sofía, IMIBIC and CIBERER Córdoba Spain

10. First Department of Pediatrics of the University of Athens Aghia Sofia Hospital Athens Greece

11. Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

12. Women and Children's Health Research Institute University of Alberta Edmonton Alberta Canada

13. Dietmar‐Hopp Metabolic Center University Children's Hospital Heidelberg Heidelberg Germany

14. Department of Pediatrics University of Alberta, Glenrose Rehabilitation Hospital Edmonton Alberta Canada

15. U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova – Campus Biomedico Pietro d'Abano Padova Italy

16. Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine Universitat Autònoma de Barcelona Barcelona Spain

17. KTP‐National University Children's Medical Institute, National University Health System Singapore Singapore

18. Faculty of Medicine University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina Novi Sad Serbia

19. Developmental Neurosciences, UCL Great Ormond Street‐Institute of Child Health and Department of Neurology Great Ormond Street Hospital London UK

20. University Children's Hospital, St. Josef‐Hospital, Ruhr‐University Bochum Bochum Germany

21. Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

22. Department of Medical Genetics University of Alberta, Women and Children's Health Research Institute, Stollery Children's Hospital Edmonton Alberta Canada

23. Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología Clínica Unidad de Gestión Clínica de Neurociencias Instituto de Biomedicina de Sevilla (IBiS) Hospital Universitario Virgen del Rocío Sevilla Spain

24. Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet Oslo Norway

25. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

26. Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine University of Belgrade Belgrade Serbia

Funder

Dietmar Hopp Stiftung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

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