A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
Berody, Sandra; Galeotti, Caroline; Koné-Paut, Isabelle; Piram, Maryam.
Joint Bone Spine
; 82(4): 240-4, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25677409
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
Le déficit en mévalonate kinase en 2016.
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.