第一单位：
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address: sarah.gruenert@uniklinik-freiburg.de.
作者：
Sarah C,Grünert [1]
;
Matthias R,Baumgartner [2]
;
Juliette,Bouchereau [3]
;
Alberto,Burlina [4]
;
Peter T,Clayton [5]
;
Javier,de Las Heras [6]
;
Carlo,Dionisi-Vici [7]
;
Corinne,Gemperle-Britschgi [8]
;
Claudia,Haase [9]
;
Stanley H,Korman [10]
;
Johannes,Krämer [11]
;
Eva,Kühlwein [12]
;
Esther M,Maier [13]
;
Arianna,Maiorana [7]
;
Manuel,Schiff [14]
;
Carl Ulrich,Schmid [15]
;
Trine,Tangeraas [16]
;
Raina,Yamamoto [17]
;
Johannes,Zschocke [18]
;
Jörn Oliver,Sass [19]
作者单位：
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address: sarah.gruenert@uniklinik-freiburg.de.
[1]
Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Switzerland.
[2]
Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants Malades, APHP and Université Paris Cité, Paris, France.
[3]
Division of Inherited Metabolic Diseases, University Hospital Padua, Padua, Italy.
[4]
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
[5]
Division of Paediatric Metabolism, CIBERER, MetabERN, Cruces University Hospital, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Bilbao, Spain.
[6]
Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
[7]
Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.
[8]
Klinik für Kinder- und Jugendmedizin, Erfurt, Germany.
[9]
Wilf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel.
[10]
Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.
[11]
University Children's Hospital Zurich - Eleonore Foundation, Zürich, Switzerland.
[12]
Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU Munich, Munich, Germany.
[13]
Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants Malades, APHP and Université Paris Cité, Paris, France; Inserm UMRS_1163, Institut Imagine, Paris, France.
[14]
Praxis für Kinder- und Jugendmedizin, Miltenberg, Germany.
[15]
Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
[16]
MVZ Dr Eberhard Partner Dortmund ÜBAG, Dortmund, Germany.
[17]
Institute for Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
[18]
Research Group Inborn Errors of Metabolism, Department of Natural Sciences and Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany. Electronic address: joern.oliver.sass@h-brs.de.
[19]
DOI
10.1016/j.gim.2025.101484
PMID
40515583
发布时间
2025-08-27
换一批
