Newborn screening for homocystinurias: Recent recommendations versus current practice

Author:

Keller Rebecca12,Chrastina Petr3,Pavlíková Markéta34,Gouveia Sofía5,Ribes Antonia6,Kölker Stefan7,Blom Henk J.8,Baumgartner Matthias R.12,Bártl Josef3,Dionisi‐Vici Carlo9,Gleich Florian7,Morris Andrew A.10,Kožich Viktor3,Huemer Martina1211,Barić Ivo12,Ben‐Omran Tawfeq13,Blasco‐Alonso Javier14,Bueno Delgado Maria A.15,Carducci Claudia16,Cassanello Michela17,Cerone Roberto18,Couce Maria Luz5,Crushell Ellen19,Delgado Pecellin Carmen15,Dulin Elena20,Espada Mercedes21,Ferino Giulio22,Fingerhut Ralph123,Garcia Jimenez Immaculada24,Gonzalez Gallego Immaculada25,González‐Irazabal Yolanda26,Gramer Gwendolyn7,Juan Fita Maria Jesus25,Karg Eszter27,Klein Jeanette28,Konstantopoulou Vassiliki29,la Marca Giancarlo3031,Leão Teles Elisa32,Leuzzi Vincenzo33,Lilliu Franco22,Lopez Rosa Maria6,Lund Allan M.34,Mayne Philip35,Meavilla Silvia36,Moat Stuart J.37,Okun Jürgen G.7,Pasquini Elisabeta38,Pedron‐Giner Consuélo Carmen39,Racz Gabor Zoltan27,Ruiz Gomez Maria Angeles40,Vilarinho Laura41,Yahyaoui Raquel42,Zerjav Tansek Moja43,Zetterström Rolf H.4445,Zeyda Maximilian29,

Affiliation:

1. Division of Metabolism and Children's Research CenterUniversity Children's Hospital Zürich Zürich Switzerland

2. radiz—Rare Disease Initiative Zürich, Clinical Research Priority ProgramUniversity of Zürich Zürich Switzerland

3. Department of Pediatrics and Adolescent MedicineCharles University—First Faculty of Medicine and General University Hospital Ke Karlovu 2, 128 08 Praha 2, Czech Republic

4. Department of Probability and Mathematical StatisticsCharles University—Faculty of Mathematics and Physics Prague Czech Republic

5. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of PediatricsHospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS) Santiago de Compostela Spain

6. Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular GeneticsHospital Clinic de Barcelona, CIBERER Barcelona Spain

7. Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent MedicineUniversity Hospital Heidelberg Heidelberg Germany

8. Department of Internal MedicineVU Medical Center Amsterdam The Netherlands

9. Division of MetabolismBambino Gesù Children's Research Hospital Rome Italy

10. Manchester Centre for Genomic MedicineManchester University Hospitals NHS Trust Manchester UK

11. Department of PaediatricsLandeskrankenhaus Bregenz Bregenz Austria

12. School of MedicineUniversity Hospital Centre Zagreb and University of Zagreb Zagreb Croatia

13. Clinical and Metabolic Genetics, Department of PediatricsHamad Medical Corporation Doha Qatar

14. Gastroenterology and Nutrition UnitHospital Regional Universitario de Málaga Málaga Spain

15. Clinical Laboratory of Metabolic Diseases and Occidental Andalucia Newborn Screening CenterHospital Universitario Virgen del Rocío Sevilla Spain

16. Department of Experimental MedicineSapienza University of Rome Rome Italy

17. Laboratory for the Study of Inborn Errors of MetabolismIstituto Giannina Gaslini Genoa Italy

18. Regional Center for Neonatal Screening and Diagnosis of Metabolic DiseasesUniversity Department of Pediatrics—Istituto Giannina Gaslini Genoa Italy

19. National Centre for Inherited Metabolic DisordersTemple Street Children's University Hospital Dublin Ireland

20. Hospital Gregorio Marañon Madrid Spain

21. Clinical Chemistry UnitPublic Health Laboratory of Bilbao Euskadi Spain

22. Regional Center for Newborn ScreeningPediatric Hospital A. Cao, AOB Brotzu Cagliari Italy

23. Swiss Newborn Screening LaboratoryUniversity Children's Hospital Zurich Zurich Switzerland

24. Unidad de MetabolismoHospital Infantil Miguel Servet Zaragoza Spain

25. Sección Metabolopatías Centro de Bioquímica y GeneticaHospital Virgen de la Arrixaca Murcia Spain

26. Unidad de Metabolopatias, Servicio de Bioquímica ClínicaHospital Universitario Miguel Servet Zaragoza Spain

27. Department of PediatricsUniversity of Szeged Szeged Hungary

28. Newborn Screening LaboratoryCharité—University Medicine Berlin Berlin Germany

29. Austrian Newborn Screening, Department of Pediatrics and Adolescent MedicineMedical University of Vienna Vienna Austria

30. Newborn Screening, Clinical Chemistry and Pharmacology LabA. Meyer Children's University Hospital Florence Italy

31. Department of Experimental and Clinical Biomedical SciencesUniversity of Florence Florence Italy

32. Metabolic Unit, Department of PediatricsSan Joao Hospital Porto Portugal

33. Department of Human NeuroscienceSapienza University of Rome Rome Italy

34. Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical GeneticsCopenhagen University Hospital Copenhagen Denmark

35. National Newborn Bloodspot Screening LaboratoryTemple Street Children's University Hospital Dublin Ireland

36. Gastroenterology, Hepatology and Nutrition Department, Metabolic UnitSant Joan de Déu Hospital, Barcelona Hospital Sant Joan de Déu Barcelona Spain

37. Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology & Toxicology and School of MedicineCardiff University Cardiff Wales, UK

38. Metabolic and Newborn Screening Clinical Unit, Department of NeurosciencesA. Meyer Children's University Hospital Florence Italy

39. Division of Gastroenterology and NutritionHospital Infantil Universitario Niño Jesús Madrid Spain

40. Clinical Lead in Metabolic Pediatric and Neurometabolic DiseasesSon Espases University Hospital, PalmaMallorca Unit Palma de Mallorca Spain

41. Newborn Screening, Metabolism & Genetics UnitNational Institute of Health Porto Portugal

42. Laboratory and Eastern Andalusia Newborn Screening CentreMálaga Regional University Hospital, Institute of Biomedical Research in Málaga (IBIMA) Málaga Spain

43. Department of Diabetes, Endocrinology and Metabolic DiseasesUniversity Children's Hospital, UMC Ljubljana Ljubljana Slovenia

44. Centre for Inherited Metabolic DiseasesKarolinska University Hospital Stockholm Sweden

45. Department of Molecular Medicine and SurgeryKarolinska Institutet Stockholm Sweden

Funder

Mayo Clinic

Univerzita Karlova v Praze

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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