Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Year: 2021
Type: review
Source: Genetics in Medicine
Authors: Francis Rossignol, Marvid S. Duarte Moreno, Jean-François Benoist, Manfred Boehm, Emmanuelle Bourrat, Aline Cano, Brigitte Chabrol, Claudine Cosson, José Luís Dapena Díaz, Arthur D’Harlingue, David Dimmock, Alexandra F. Freeman, María Tallón García, Cheryl Garganta, Tobias Goerge, Sara S. Halbach, Jan de Laffolie, Christina T. Lam, Ludovic Martin, Esmeralda Martins, Andrea Meinhardt, Isabelle Melki, Amanda K. Ombrello, Noémie Pérez, Dulce Quelhas, Anna Scott, Anne M. Slavotinek, Ana Rita Soares, Sarah L. Stein, Kira Süßmuth, Jenny Thies, Carlos R. Ferreira, Manuel Schiff
Institutions: National Institutes of Health, National Human Genome Research Institute, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Robert-Debré, Hôpital Necker-Enfants Malades, National Heart, Lung, and Blood Institute, Hôpital Saint-Louis, Assistance Publique Hôpitaux de Marseille, Hôpital de la Timone, Laboratoire de Biochimie, Bicêtre Hospital, Hospital Sant Joan de Déu Barcelona, Universitat de Barcelona, University of California, San Francisco, UCSF Benioff Children's Hospital, Rady Children's Institute for Genomic Medicine, National Institute of Allergy and Infectious Diseases, Universidade de Santiago de Compostela, University of Florida Health, University of Florida, University Hospital Münster, University of Chicago, Justus-Liebig-Universität Gießen, Seattle Children's Hospital, University of Washington, Centre Hospitalier Universitaire d'Angers, Centro Hospitalar do Porto, Institut des Maladies Génétiques Imagine, Centre Hospitalier de Valenciennes, Instituto de Ciências Biomédicas Albel Salazar, Inserm
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
Funder: National Institutes of Health
Award: G5294359063
OpenAlex ID: W3164045936