Article
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2021
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
Abstract excerpt
PURPOSE: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature. METHODS: Nineteen patients...
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