Results 81 to 90 of about 28,306 (175)
Hyperimmunoglobulin-D Syndrome in Children: A Review Article
Journal of Pediatrics Review, 2016 Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene.
Masoud Golpour, Javad Ghaffari
doaj
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition
Case Reports in Veterinary Medicine, 2017 Glucose-6-phosphate dehydrogenase (G6PD) is an oncoprotein that is overexpressed in cancer cells to provide the NADPH required for their increased anabolism. NADPH, sourced from G6PD fuels nucleotide biosynthesis, maintains redox potential of thioredoxin
Jonathan W. Nyce
doaj +1 more source
Diagnosis and treatment of Mevalonate Kinase Deficiency
, 2022 Mevalonate Kinase Deficiency (MKD)is a inflammatory disease, characterized by fever and inflammation in different organ systems. The disease is rare with approximately 300 known cases worldwide. This complicates the diagnosis since many physicians are unaware of the disease and its symptoms. The diagnosis can be made by genetic testing.
openaire +2 more sources
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
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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
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
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
HSCT in mevalonate kinase deficiency
Pediatric Rheumatology, 2013 Wolska-Kuśnierz, Beata +3 more
openaire +1 more source