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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Rossignol, Francis; Duarte Moreno, Marvid S; Benoist, Jean-François; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Díaz, José Luís Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F; García, María Tallón; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S; de Laffolie, Jan; Lam, Christina T; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K; Pérez, Noémie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M; Soares, Ana Rita; Stein, Sarah L; Süßmuth, Kira; Thies, Jenny; Ferreira, Carlos R; Schiff, Manuel.
Afiliação
  • Rossignol F; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Duarte Moreno MS; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Robert-Debré, Université de Paris, Paris, France.
  • Benoist JF; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France.
  • Boehm M; National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Bourrat E; Reference Center for Genodermatoses MAGEC Saint Louis, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Saint Louis, Paris, France.
  • Cano A; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France.
  • Chabrol B; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France.
  • Cosson C; Laboratoire de Biochimie, Hôpital Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Díaz JLD; Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
  • D'Harlingue A; Benioff Children's Hospital Oakland, University of California, San Francisco, Oakland, CA, USA.
  • Dimmock D; Project Baby Bear, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Freeman AF; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • García MT; Hospital Álvaro Cunqueiro, Universidad de Santiago de Compostela, Vigo, Spain.
  • Garganta C; Division of Genetics and Metabolism, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA.
  • Goerge T; Department of Dermatology, University Hospital Münster, Münster, Germany.
  • Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA.
  • de Laffolie J; University Children's Hospital, Justus-Liebig-University, Giessen, Germany.
  • Lam CT; Seattle Children's Hospital, Seattle, WA, USA.
  • Martin L; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA, USA.
  • Martins E; Centre Hospitalier Universitaire d'Angers, Angers, France.
  • Meinhardt A; Centro Hospitalar Universitário do Porto, Porto, Portugal.
  • Melki I; University Children's Hospital, Justus-Liebig-University, Giessen, Germany.
  • Ombrello AK; 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.
  • Pérez N; 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.
  • Quelhas D; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France.
  • Scott A; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Slavotinek AM; Centre Hospitalier de Valenciennes, Valenciennes, France.
  • Soares AR; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
  • Stein SL; Seattle Children's Hospital, Seattle, WA, USA.
  • Süßmuth K; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA, USA.
  • Thies J; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital San Francisco, University of California, San Francisco, San Francisco, CA, USA.
  • Ferreira CR; Centro Hospitalar Universitário do Porto, Porto, Portugal.
  • Schiff M; University of Chicago Medicine, University of Chicago, Chicago, IL, USA.
Genet Med ; 23(9): 1604-1615, 2021 09.
Article em En | MEDLINE | ID: mdl-34040193
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Crohn / Deficiência de Prolidase / Úlcera da Perna Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Crohn / Deficiência de Prolidase / Úlcera da Perna Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article