换一批
换一批Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
作者：
Francis,Rossignol [1]
;
Marvid S,Duarte Moreno [2]
;
Jean-François,Benoist [3]
;
Manfred,Boehm [4]
;
Emmanuelle,Bourrat [5]
;
Aline,Cano [6]
;
Brigitte,Chabrol [6]
;
Claudine,Cosson [7]
;
José Luís Dapena,Díaz [8]
;
Arthur,D'Harlingue [9]
;
David,Dimmock [10]
;
Alexandra F,Freeman [11]
;
María Tallón,García [12]
;
Cheryl,Garganta [13]
;
Tobias,Goerge [14]
;
Sara S,Halbach [15]
;
Jan,de Laffolie [16]
;
Christina T,Lam [17]
;
Ludovic,Martin [18]
;
Esmeralda,Martins [19]
;
Andrea,Meinhardt [20]
;
Isabelle,Melki [16]
;
Amanda K,Ombrello [21]
;
Noémie,Pérez [22]
;
Dulce,Quelhas [23]
;
Anna,Scott [1]
;
Anne M,Slavotinek [24]
;
Ana Rita,Soares [25]
;
Sarah L,Stein [17]
;
Kira,Süßmuth [18]
;
Jenny,Thies [26]
;
Carlos R,Ferreira [20]
;
Manuel,Schiff [15]
作者单位：
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[1]
Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Robert-Debré, Université de Paris, Paris, France.
[2]
Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France.
[3]
National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
[4]
Reference Center for Genodermatoses MAGEC Saint Louis, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Saint Louis, Paris, France.
[5]
Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France.
[6]
Laboratoire de Biochimie, Hôpital Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
[7]
Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
[8]
Benioff Children's Hospital Oakland, University of California, San Francisco, Oakland, CA, USA.
[9]
Project Baby Bear, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
[10]
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
[11]
Hospital Álvaro Cunqueiro, Universidad de Santiago de Compostela, Vigo, Spain.
[12]
Division of Genetics and Metabolism, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA.
[13]
Department of Dermatology, University Hospital Münster, Münster, Germany.
[14]
University of Chicago Medicine, University of Chicago, Chicago, IL, USA.
[15]
University Children's Hospital, Justus-Liebig-University, Giessen, Germany.
[16]
Seattle Children's Hospital, Seattle, WA, USA.
[17]
Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA, USA.
[18]
Centre Hospitalier Universitaire d'Angers, Angers, France.
[19]
Centro Hospitalar Universitário do Porto, Porto, Portugal.
[20]
General Pediatrics, Infectious Disease and Internal Medicine Department, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.
[21]
Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.
[22]
Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France.
[23]
Centre Hospitalier de Valenciennes, Valenciennes, France.
[24]
Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
[25]
Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital San Francisco, University of California, San Francisco, San Francisco, CA, USA.
[26]
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. carlos.ferreira@nih.gov.
[27]
INSERM U1163, Institut Imagine, Paris, France.
[28]
主题词
儿童(Child);儿童, 学龄前(Child, Preschool);Crohn病(Crohn Disease);延迟诊断(Delayed Diagnosis);人类(Humans);腿溃疡(Leg Ulcer);表型(Phenotype);氨酰基脯氨酸酶缺陷(Prolidase Deficiency)
DOI
10.1038/s41436-021-01200-2
PMID
34040193
发布时间
2022-03-02
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Genetics in medicine
Genetics in medicine
1604-1615页
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