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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...
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Article
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis
Hyper-IgD and periodic fever syndrome (HIDS) is a hereditary autoinflammatory syndrome, characterized by recurrent inflammatory attacks. Treatment of HIDS is difficult. Recently, the IL-1ra analogue anakinra w...
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Article
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
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Article
l-2-Hydroxyglutaric aciduria: Two further cases