Results 111 to 120 of about 519 (143)

Mevalonic aciduria: Report of two cases

Journal of Inherited Metabolic Disease, 2007
SummaryMevalonic aciduria is a rare disease that is a consequence of a deficiency of mevalonate kinase, an inborn error in the biosynthesis of cholesterol. Approximately 30 cases have been reported. We present our data on two siblings with mevalonic aciduria as a contribution to the recognition of this subject.
J R, Bretón Martínez, A, Cánovas Martínez, S, Casaña Pérez, J, Escribá Alepuz, F, Giménez Vázquez   +4 more
openaire   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Mevalonic Aciduria Cured by Bone Marrow Transplantation

New England Journal of Medicine, 2007
To the Editor: Neven et al. (June 28 issue)1 discuss the use of bone marrow transplantation in the treatment of severe mevalonic aciduria.
Peter D Arkwright, Mario Abinun, Andrew J Cant   +2 more
exaly   +2 more sources

RETINITIS PIGMENTOSA AND PUNCTATE CATARACTS IN MEVALONIC ACIDURIA

RETINAL Cases & Brief Reports, 2010
Mevalonic aciduria, caused by deficiency of mevalonate kinase, was the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Ophthalmic features of this potentially blinding disorder include blue sclera, cataract, uveitis, optic atrophy, and, importantly, a retinitis pigmentosa-like retinopathy.
Shawn C, Wilker, Gislin, Dagnelie, Morton F, Goldberg   +2 more
openaire   +3 more sources

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

Journal of Inherited Metabolic Disease, 1997
Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality of cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy and ...
K M, Gibson, G F, Hoffmann, L, Sweetman, B, Buckingham   +3 more
openaire   +3 more sources

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

European Journal of Pediatrics, 1988
Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father
K Michael Gibson, L Sweetman, R Berger
exaly   +4 more sources

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

Pediatrics, 1993
Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients including ...
Josette Mancini, Michael Leichsenring, Hoffmann Georg F   +2 more
exaly   +4 more sources

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis

New England Journal of Medicine, 1986
A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid, a metabolic precursor of cholesterol and nonsterol isoprenes: 46,000 to 56,200 mmol per mole of creatinine ...
Georg F Hoffmann, Ira K Brandt, Rebecca S Wappner   +2 more
exaly   +3 more sources

Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

Journal of Inherited Metabolic Disease, 1988
Mevalonic aciduria represents the first documented inherited disorder of the pathway for the biosynthesis of cholesterol and non-sterol isoprenes in man (Hoffmann et al., 1986). Two patients have been described (Berger et al., 1985; Hoffmann et al., 1986), whose clinical presentations were very different.
G, Hoffmann, K M, Gibson, W L, Nyhan, L, Sweetman   +3 more
openaire   +3 more sources

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

Journal of Inherited Metabolic Disease, 2005
SummaryPrenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed.
M O Rolland, L Cuisset, C Vianey-Saban
exaly   +3 more sources

Mevalonic aciduria

, 2011
core   +3 more sources