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Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity
Hepatology, 2021 Melissa Chiu +5 more
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Journal of Inherited Metabolic Disease, 2009
The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or ...
E R Baumgartner +2 more
exaly +1 more source
The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or ...
E R Baumgartner +2 more
exaly +1 more source
European Journal of Human Genetics, 2001 Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding ...
Sander M Houten +2 more
exaly +2 more sources
Abnormal prenatal ultrasound findings in mevalonic aciduria
Prenatal Diagnosis, 2008Georg F Hoffmann, U Gembruch
exaly +2 more sources
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Molecular Genetics and Metabolism, 2012Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis.
Chitra, Prasad +2 more
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Near normal levels of isoprenoid lipids in severe mevalonic aciduria
Biochemical and Biophysical Research Communications, 1988The levels of cholesterol and dolichyl phosphate in the liver of an abortus with severe mevalonic aciduria were found to be approximately 60% of the mean of 5 age matched controls, while the level of squalene was within the normal range. Thus, despite a level of mevalonate kinase reported to be less than 1% of normal (Hoffmann, H. et al. (1986) N. Engl.
R K, Keller, W S, Simonet
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Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy
Pediatric Neurology, 1993Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported.
J, Mancini +5 more
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Mevalonic aciduria cured by bone marrow transplantation [7]
The New England Journal of Medicine, 2007 Arkwright, Peter D.; id_orcid 0000-0002-7411-5375 +2 more
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Journal of Inherited Metabolic Disease, 1987
Mevalonic aciduria was found in a 19-month-old boy with severe failure to thrive and developmental delay (Sweetman et al., 1985; Hoffmann et al., 1986). Cardinal manifestations included recurrent anaemia, mild hepatosplenomegaly, bilateral central cataracts and dysmorphic features. Serum cholesterol was low (1.82.1mmol/L).
K. M. Gibson +6 more
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Mevalonic aciduria was found in a 19-month-old boy with severe failure to thrive and developmental delay (Sweetman et al., 1985; Hoffmann et al., 1986). Cardinal manifestations included recurrent anaemia, mild hepatosplenomegaly, bilateral central cataracts and dysmorphic features. Serum cholesterol was low (1.82.1mmol/L).
K. M. Gibson +6 more
openaire +1 more source