Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Publication date: Available online 5 October 2022Source: Blood Cells, Molecules, and DiseasesAuthor(s): Clara Carnicer-Cáceres, Yolanda Villena-Ortiz, Laura Castillo-Ribelles, Raquel Barquín-del-Pino, Maria Camprodon-Gomez, Ana Felipe-Rucián, David Mor…

Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress

Publication date: Available online 6 July 2022Source: Blood Cells, Molecules, and DiseasesAuthor(s): Agata Kubickova, Zuzana Maceckova, Petr Vojta, Martin Ondra, Jana Volejnikova, Pavla Koralkova, Alexandra Jungova, Ondřej Jahoda, Renata Mojzikova, Iva…