换一批The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
第一作者：
Stefan,Kölker
第一单位：
Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de.
作者：
Stefan,Kölker [1]
;
Vassili,Valayannopoulos [2]
;
Alberto B,Burlina [3]
;
Jolanta,Sykut-Cegielska [4]
;
Frits A,Wijburg [5]
;
Elisa Leão,Teles [6]
;
Jiri,Zeman [7]
;
Carlo,Dionisi-Vici [8]
;
Ivo,Barić [9]
;
Daniela,Karall [10]
;
Jean-Baptiste,Arnoux [2]
;
Paula,Avram [11]
;
Matthias R,Baumgartner [12]
;
Javier,Blasco-Alonso [13]
;
S P Nikolas,Boy [14]
;
Marlene Bøgehus,Rasmussen [15]
;
Peter,Burgard [14]
;
Brigitte,Chabrol [16]
;
Anupam,Chakrapani [17]
;
Kimberly,Chapman [18]
;
Elisenda,Cortès I Saladelafont [19]
;
Maria L,Couce [20]
;
Linda,de Meirleir [21]
;
Dries,Dobbelaere [22]
;
Francesca,Furlan [3]
;
Florian,Gleich [14]
;
Maria Julieta,González [19]
;
Wanda,Gradowska [23]
;
Stephanie,Grünewald [24]
;
Tomas,Honzik [7]
;
Friederike,Hörster [14]
;
Hariklea,Ioannou [25]
;
Anil,Jalan [26]
;
Johannes,Häberle [12]
;
Gisela,Haege [14]
;
Eveline,Langereis [5]
;
Pascale,de Lonlay [2]
;
Diego,Martinelli [8]
;
Shirou,Matsumoto [27]
;
Chris,Mühlhausen [28]
;
Elaine,Murphy [29]
;
Hélène Ogier,de Baulny [30]
;
Carlos,Ortez [19]
;
Consuelo C,Pedrón [31]
;
Guillem,Pintos-Morell [32]
;
Luis,Pena-Quintana [33]
;
Danijela Petković,Ramadža [33]
;
Esmeralda,Rodrigues [6]
;
Sabine,Scholl-Bürgi [10]
;
Etienne,Sokal [34]
;
Marshall L,Summar [18]
;
Nicholas,Thompson [24]
;
Roshni,Vara [35]
;
Inmaculada Vives,Pinera [36]
;
John H,Walter [37]
;
Monique,Williams [38]
;
Allan M,Lund [15]
;
Angeles,Garcia-Cazorla [19]
作者单位：
Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de.
[1]
Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France.
[2]
Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy.
[3]
Screening Department, Institute of Mother and Child, Warsaw, Poland.
[4]
Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands.
[5]
Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal.
[6]
First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic.
[7]
Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy.
[8]
School of Medicine University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.
[9]
Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria.
[10]
Institute of Mother and Child Care "Alfred Rusescu", Bucharest, Romania.
[11]
Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland.
[12]
Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain.
[13]
Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
[14]
Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
[15]
Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France.
[16]
Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK.
[17]
Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA.
[18]
Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
[19]
Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
[20]
University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium.
[21]
Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France.
[22]
Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland.
[23]
Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK.
[24]
1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece.
[25]
N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India.
[26]
Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan.
[27]
Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany.
[28]
National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, UK.
[29]
Hôpital Robert Debré, Université de Paris, Paris, France.
[30]
Department of Pediatrics, Metabolic Diseases Unit, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
[31]
Department of Pediatrics, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.
[32]
University Hospital Center Zagreb, Zagreb, Croatia.
[33]
Cliniques Universitaires St Luc, Université Catholique de Louvain, Service Gastroentérologie and Hépatologie Pédiatrique, Bruxelles, Belgium.
[34]
Evelina Children's Hospital, St Thomas' Hospital, London, United Kingdom.
[35]
Hospital Virgen de la Arrixaca de Murcia, Inborn Metabolic Disease Unit, El Palmar, Spain.
[36]
Manchester Academic Health Science Centre, University of Manchester, Willink Biochemical Genetics Unit, Genetic Medicine, Manchester, UK.
[37]
Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands.
[38]
医学主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);精氨基琥珀酸尿(Argininosuccinic Aciduria);脑疾病, 代谢性(Brain Diseases, Metabolic);儿童(Child);儿童, 学龄前(Child, Preschool);欧洲(Europe);女(雌)性(Female);戊二酰-CoA脱氢酶(Glutaryl-CoA Dehydrogenase);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);Kaplan-Meiers评估(Kaplan-Meier Estimate);肾功能衰竭, 慢性(Kidney Failure, Chronic);肝(Liver);男(雄)性(Male);中年人(Middle Aged);新生儿筛查(Neonatal Screening);鸟氨酸氨甲酰转移酶缺乏症(Ornithine Carbamoyltransferase Deficiency Disease);表型(Phenotype);丙酸血症(Propionic Acidemia);登记(Registries);尿素循环障碍, 先天性(Urea Cycle Disorders, Inborn);青年人(Young Adult)
DOI
10.1007/s10545-015-9840-x
PMID
25875216
发布时间
2019-01-14
- 浏览17
Journal of inherited metabolic disease
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