Results 51 to 60 of about 519 (143)

Quantification of dolichol in the human lens with different types of cataracts. [PDF]

, 2009
PURPOSE: To quantify and characterize dolichol species in cataractous and clear human lenses. METHODS: Whole lenses were collected from cadaver eyeballs from the C.H. Nagri Eye Bank and Red Cross Society Eye Bank (Ahmedabad, India). Cataractous nuclei
Vasavada, Abhay R, Swiezewska, Ewa, Alapure, Bhagwat, Jóźwiak, Adam, Parmar, Trilok, Gajjar, Devarshi, Johar, Kaid   +6 more
core  

AB1063 INTERSTITIAL LUNG DISEASE IN A NEWBORN AFFECTED BY MEVALONIC ACIDURIA [PDF]

Annals of the Rheumatic Diseases, 2019
Background Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with early onset and poor prognosis. Given its rarity and its unspecific symptoms, MA diagnosis may be challenging in the newborn. To our knowledge, interstial lung involvement has never been described as onset feature in MKD.
Sofia Torreggiani, Carlo Pietrasanta, Francesca Minoia, Giovanni Filocamo, Andrea Ronchi, Stefano Volpi, Roberta Caorsi, Marco Gattorno, Francesco Caroli, Alice Grossi, Isabella Ceccherini, Lorenza Pugni, Fabio Mosca   +12 more
openaire   +1 more source

Perinatal Onset Mevalonate Kinase Deficiency

, 2011
Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic ...
Laurie A. Steiner, Patrick G. Gallagher, Richard A. Ehrenkranz, Steven M. Peterec, Robert D. Steiner, Miguel Reyes-Múgica   +5 more
core   +1 more source

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra [PDF]

, 2016
Background: Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are
Birute Burnyte, Utkus, Algirdas,, Skirmante Rusoniene, Arunas Liubsys, Rymanta Gudaitiene, Nijole Drazdiene, Rusonienė, Skirmantė,, Drazdienė, Nijolė,, Algirdas Utkus, Liubšys, Arūnas,, Gudaitienė, Rymanta,, Burnytė, Birutė,, Skaiste Peciuliene, Skaiste Peciuliene, Pečiulienė, Skaistė,   +14 more
core   +1 more source

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Journal of Biological Chemistry, 1992
Mevalonic aciduria is the first proposed inherited disorder of the cholesterol/isoprene biosynthetic pathway in humans, and it is presumed to be caused by a mutation in the gene coding for mevalonate kinase. To elucidate the molecular basis of this inherited disorder, a 2.0-kilobase human mevalonate kinase cDNA clone was isolated and sequenced.
B L, Schafer, R W, Bishop, V J, Kratunis, S S, Kalinowski, S T, Mosley, K M, Gibson, R D, Tanaka   +6 more
openaire   +2 more sources

Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by biallelic mutations in the MVK gene. The phenotypic spectrum is variable and ranges from periodic fever syndrome (PFS) to mevalonic aciduria (MA), with ...
Triaille, Clément, Martin, Céleste, Boulanger, Cécile, Scheers, Isabelle   +3 more
core   +1 more source

Mevalonic aciduria [PDF]

, 2020
openaire   +2 more sources

Microglia activation and interaction with neuronal cells in a biochemical model of mevalonate kinase deficiency

, 2015
Mevalonate kinase deficiency is a rare disease whose worst manifestation, characterised by severe neurologic impairment, is called mevalonic aciduria. The progressive neuronal loss associated to cell death can be studied in vitro with a simplified model ...
MARCUZZI, ANNALISA, TRICARICO, PAOLA MAURA, Piscianz Elisa, Crovella Sergio, Marcuzzi Annalisa, Monasta, Lorenzo, KLEINER, GIULIO, PISCIANZ, ELISA, CROVELLA, SERGIO, Tricarico Paola Maura, Monasta Lorenzo, Kleiner Giulio   +11 more
core   +1 more source

Mevalonate kinase deficiency: Evidence for a phenotypic continuum

, 2004
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are ...
Wevers, R A, Scheffer, H, de Jong, J G, Kremer, H P H, Simon, A, van der Meer, J W M, Drenth, J. P.   +6 more
core   +1 more source

Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

, 2015
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
Frenkel, Joost, de Koning, Tom J, Vastert, Sebastiaan J, Thors, Valtyr S, Wulffraat, Nico, van Royen, Annet, de Sain-van der Velden, Monique   +6 more
core   +1 more source