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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Francis Rossignol, Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano, B. Chabrol, Claudine Cosson, José Luís Dapena Díaz, Arthur E. DʼHarlingue, David Dimmock, Alexandra F. Freeman, María Tallón García, Cheryl Garganta, Tobias Goerge, Sara Halbach, Jan de Laffolie, Christina Lam, Ludovic Martin, Esmeralda Martins, Andrea Meinhardt, Isabelle Melki, Amanda K. Ombrello, Noémie Pérez, Dulce Quelhas, Anna I. Scott, Anne Slavotinek, Ana Rita Soares, Sarah L. Stein, Kira Süßmuth, Jenny Thies, Carlos R. Ferreira, Manuel Schiff

2021Genetics in Medicine26 citationsDOIOpen Access PDF

Topics & Concepts

MedicineNatural historyPediatricsCohortDiseaseAutoimmunityNewborn screeningImmunologyInternal medicinePeptidase Inhibition and AnalysisSignaling Pathways in DiseaseCellular transport and secretion
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases | Litcius