TY  - GEN
AU  - Berody,Sandra
AU  - Galeotti,Caroline
AU  - Koné-Paut,Isabelle
AU  - Piram,Maryam
TI  - A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency
SN  - 1778-7254
PY  - 2016///0419
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - DNA Mutational Analysis
KW  - Diagnosis, Differential
KW  - Female
KW  - Humans
KW  - Immunoglobulin D
KW  - blood
KW  - Male
KW  - Mevalonate Kinase Deficiency
KW  - diagnosis
KW  - Mutation
KW  - Phosphotransferases (Alcohol Group Acceptor)
KW  - genetics
KW  - Referral and Consultation
KW  - Retrospective Studies
KW  - Surveys and Questionnaires
KW  - Young Adult
N1  - Publication Type: Journal Article; Multicenter Study
UR  - https://doi.org/10.1016/j.jbspin.2014.12.011
ER  -