Results 71 to 80 of about 519 (143)

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. [PDF]

J Clin Med, 2021
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I.   +4 more
europepmc   +1 more source

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]

Genes (Basel)
Kumar V, de Saint-Aubain CJ, Konstantinov KN.   +2 more
europepmc   +1 more source

What General Neurologists Should Know about Autoinflammatory Syndromes? [PDF]

Brain Sci, 2023
de Moraes MPM, do Nascimento RRNR, Abrantes FF, Pedroso JL, Perazzio SF, Barsottini OGP.   +5 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 Pediatr
Burleigh A, Kul Cinar O, Torpiano P, Munoz MA, Abell-King C, Rogers MJ, Eleftheriou D, Brogan PA.   +7 more
europepmc   +1 more source

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. [PDF]

Pediatr Rheumatol Online J, 2023
Irwin M, Tanawattanacharoen VK, Turner A, Son MBF, Hale RC, Platt CD, Putra J, Schmidt BAR, Wasserman MG.   +8 more
europepmc   +1 more source

Editorial: The role of innate immunity in the pathogenesis of autoimmune and autoinflammatory diseases. [PDF]

Front Immunol
Carmona-Rivera C, Gómez-Martín D, Maravillas-Montero JL, Torres-Ruiz JJ.   +3 more
europepmc   +1 more source

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]

Mol Syndromol, 2022
Koç Yekedüz M, Doğulu N, Öncül Ü, Köse E, Ceylaner S, Eminoğlu FT.   +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, Rimondi E, Pozza E, Melloni E, Zauli E, Bifulco M, Martinelli R, Marcuzzi A.   +7 more
europepmc   +1 more source

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]

Cureus
Almomani SA, Ponnambath HIC, Yahya A.
europepmc   +1 more source

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience. [PDF]

Front Endocrinol (Lausanne), 2022
Kölker S, Gleich F, Mütze U, Opladen T.   +3 more
europepmc   +1 more source