Results 141 to 150 of about 22,445 (200)

Periodic fever and mevalonate kinase deficiency

open access: yes, 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

HSCT in mevalonate kinase deficiency

open access: yesPediatric Rheumatology, 2013
Wolska-Kuśnierz, Beata   +3 more
openaire   +1 more source

Isoprenoid biosynthesis and mevalonate kinase deficiency

open access: yes, 2011
Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree.
openaire   +2 more sources

Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. [PDF]

open access: yesAnn Allergy Asthma Immunol, 2018
Dunn K   +5 more
europepmc   +1 more source

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