A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency. [electronic resource]
- Joint bone spine Jul 2015
- 240-4 p. digital
Publication Type: Journal Article; Multicenter Study
1778-7254
10.1016/j.jbspin.2014.12.011 doi
Adolescent Adult Child DNA Mutational Analysis Diagnosis, Differential Female Humans Immunoglobulin D--blood Male Mevalonate Kinase Deficiency--diagnosis Mutation Phosphotransferases (Alcohol Group Acceptor)--genetics Referral and Consultation Retrospective Studies Surveys and Questionnaires Young Adult