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Le déficit en mévalonate kinase (MKD) est une maladie auto-inflammatoire autosomique récessive causée par des mutations du gène MVK. Le MKD est une maladie très rare, et de ce fait de nombreuses erreurs de diagnostic et de recommandations médicales peuvent précéder le diagnostic, ce qui rend cette maladie encore plus lourde.Évaluer les recommandations médicales entre le premier symptôme et le diagnostic...
Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease.To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay.A questionnaire...
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