Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome. [PDF]
Cureus, 2022 Reji M, Thapa R.
europepmc +1 more source
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. [PDF]
J Clin Med, 2021 Boursier G +4 more
europepmc +1 more source
Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings. [PDF]
CureusEsmeraldo MA +3 more
europepmc +1 more source
What General Neurologists Should Know about Autoinflammatory Syndromes? [PDF]
Brain Sci, 2023 de Moraes MPM +5 more
europepmc +1 more source
A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. [PDF]
Pediatr Rheumatol Online J, 2023 Irwin M +8 more
europepmc +1 more source
Case Report: Clinical application of an <i>in vitro</i> prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel <i>MVK</i> variant. [PDF]
Front PediatrBurleigh A +7 more
europepmc +1 more source
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]
Mol Syndromol, 2022 Koç Yekedüz M +5 more
europepmc +1 more source
Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation. [PDF]
Int J Environ Res Public Health, 2022 Pisanti S +7 more
europepmc +1 more source
Interstitial lung disease in a newborn affected by mevalonic aciduria
, 2019 Introduction: Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with a onset in early infancy and poor prognosis. MA diagnosis may be challenging in the neonatal period given its rarity and its unspecific symptoms that frequently recall those of other neonatal diseases.
Torreggiani Sofia +12 more
openaire +1 more source
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience. [PDF]
Front Endocrinol (Lausanne), 2022 Kölker S +3 more
europepmc +1 more source