LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
作者信息
Taibi Ludmia, Schlemmer Dimitri, Bouchereau Juliette, Causson Claudine, Pichard Samia, Bourrat Emmanuelle, Melki Isabelle, Schiff Manuel, Benoist Jean-François, Imbard Apolline
机构信息
Biochemistry Laboratory, CHU Robert Debre, APHP, Paris, France.
Reference Center for Inborn Error of Metabolism, Pediatrics Department, Necker and Robert-Debré Hospital, APHP, University of Paris, Paris, France.
出版信息
Clin Chem. 2022 Jan 7. doi: 10.1093/clinchem/hvab208.
PMID:35015843
Abstract
摘要
Zotero 插件