Results 91 to 100 of about 519 (143)

The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases. [PDF]

Front Pediatr
Meertens B, Hoste L, Tavernier SJ, Haerynck F.   +3 more
europepmc   +1 more source

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients. [PDF]

Sci Rep
Salehi M, Ahanchian H, Karimiani EG, Aelami MH, Moazzen N, Neshati Z, Pasdar A.   +6 more
europepmc   +1 more source

Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report. [PDF]

Saudi J Med Med Sci
Juraij M, Barakat F, Ifthikar Z, Alsohaibani F.   +3 more
europepmc   +1 more source

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. [PDF]

Front Immunol
Politiek FA, Turkenburg M, Ofman R, Waterham HR.   +3 more
europepmc   +1 more source

Updates on protein-prenylation and associated inherited retinopathies. [PDF]

Front Ophthalmol (Lausanne)
Ashok S, Ramachandra Rao S.
europepmc   +1 more source

Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. [PDF]

J Invest Dermatol, 2019
Atzmony L, Choate KA.
europepmc   +1 more source

30 REGULATORY ADAPTATION OF CHOLESTEROL BIOSYNTHESIS AND THE LDL-RECEPTOR PATHWAY IN MEVALONIC ACIDURIA

, 1990
G F Hoffmann, K M Gibson
core   +1 more source

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases. [PDF]

Front Ophthalmol (Lausanne)
Fonollosa A, Carreño E, Vitale A, Jindal AK, Ramanan AV, Pelegrín L, Santos-Zorrozua B, Gómez-Caverzaschi V, Cantarini L, Fabiani C, Hernández-Rodríguez J.   +10 more
europepmc   +1 more source

MEVALONIC ACIDURIA: IMPAIRED UBIQUINON BIOSYNTHESIS AND MODEL FOR SIDE EFFECTS OF HMG-COA REDUCTASE INHIBITORS

, 1992
C Charpentier, C Hübner, G F Hoffmann, K M Gibson   +3 more
core   +1 more source

Blinded Minds: The Role of Cataracts in Cognitive Decline and Dementia. [PDF]

Cureus
Estil-Las AA, Grace M, Arsene C, Gonzalez La Rosa J.   +3 more
europepmc   +1 more source