title: Histidinaemia: screening, diagnosis, clinical picture, therapy.
abstract: The paper presents the data of mass and selective screening on histidinaemia. The results of complex clinical investigation of 16 patients with histidinaemia are demonstrated. Two forms of the disease were differentiated on the basis of evaluation histidine metabolism. The results of morphological examination of liver biopsy specimens obviously demonstrated significant structural and functional disorders of the liver in histidinaemia.
authors.affiliation: Institute of Paediatrics and Paediatric Surgery of the RSFSR Ministry of Health, Moscow, USSR.
authors.forename: J I
authors.initials: JI
authors.lastname: Barashnev
authors.forename: E A
authors.initials: EA
authors.lastname: Nikolayeva
authors.forename: A I
authors.initials: AI
authors.lastname: Klembovsky
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000178:diet therapy / Q000473:pathology; D006639:Histidine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008099:Liver / Q000473:pathology; D008403:Mass Screening
chemical_list: D006639:Histidine