Berody, Sandra

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