Intracellular cholesterol transport proteins: roles in health and disease [PDF]
, 2016 Graham, Annette, Soffientini, Ugo
core +1 more source
Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases
JK ScienceMevalonate kinase deficiency (MKD) is an exceedingly rare autosomal recessive inborn metabolism error characterized by mutations in the MVK gene, leading to impaired synthesis of cholesterol and isoprenoids.
Hema Sameera Pinnam +3 more
doaj
Rheumatology and TherapyIntroduction Interim analysis of the long-term safety and effectiveness of canakinumab, at a patient level, in the mevalonate kinase deficiency/hyperimmunoglobulin-D syndrome (MKD/HIDS) cohort of the RELIANCE registry.
Prasad T. Oommen +5 more
doaj +1 more source
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab. [PDF]
Arch Rheumatol, 2020 Çakan M +3 more
europepmc +1 more source
Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature [PDF]
, 2017 core +1 more source
Periodic fever and mevalonate kinase deficiency
, 2002 Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non-sterol isoprenoids.
openaire +1 more source
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review. [PDF]
Pediatr Rheumatol Online JLi Y, Lu M.
europepmc +1 more source
HSCT in mevalonate kinase deficiency
Pediatric Rheumatology, 2013 Wolska-Kuśnierz, Beata +3 more
openaire +1 more source
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. [PDF]
Ann Allergy Asthma Immunol, 2018 Dunn K +5 more
europepmc +1 more source