Results 101 to 110 of about 426 (123)

An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

Acta Paediatrica, 2002
This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo. Conclusion: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis.
L, Nimubona, D, Laloum, M O, Rolland, M H, Read, B, Guillois, J F, Duhamel   +5 more
openaire   +2 more sources

A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis

Journal of Inherited Metabolic Disease, 1988
Mevalonic aciduria is an inborn error in cholesterol biosynthesis, due to a deficiency of mevalonate kinase (EC 2.7.1.36), which has recently been discovered. So far two patients have been reported (Berger et al., 1985; Hoffmann et al., 1986).
J B, de Klerk, M, Duran, L, Dorland, H A, Brouwers, L, Bruinvis, D, Ketting   +5 more
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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

Journal of Inherited Metabolic Disease, 2000
Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly.
Poll-The, B. T., Frenkel, J., Houten, S. M., Kuis, W., Duran, M., de Koning, T. J., Dorland, L., de Barse, M. M., Romeijn, G. J., Wanders, R. J., Waterham, H. R.   +10 more
openaire   +4 more sources

Mevalonate kinase assay using DEAE‐cellulose column chromatography for first‐trimester prenatal diagnosis and complementation analysis in mevalonic aciduria

Journal of Inherited Metabolic Disease, 1991
SummaryMevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with clinical variability in 10 patients from 7 families. We sought to define a genetic basis for this heterogeneity by determining mevalonate kinase activity in fibroblast heterokaryons obtained by polyethylene glycol fusion ...
G F, Hoffmann, S U, Brendel, S R, Scharfschwerdt, Y S, Shin, I M, Speidel, K M, Gibson   +5 more
openaire   +2 more sources

Mevalonic Aciduria

2023
Amirhossein Habibzadeh, Shaghayegh Khanmohammadi   +1 more
openaire   +1 more source

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity

Hepatology, 2021
Melissa Chiu, Justin Garabon, Lina Chen, Natalya Karp, Akshay Kapoor, Jessica P. Woolfson   +5 more
openaire   +2 more sources

Mevalonic aciduria

Journal of Inherited Metabolic Disease, 1991
V, Kozich, K M, Gibson, J, Zeman, J, Nĕmecek, G F, Hoffman, F, Pehal, J, Hyánek, A, Grosmanová, P, Verner   +8 more
openaire   +2 more sources

Mevalonic aciduria

2011
openaire   +2 more sources

Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency

Clinica Chimica Acta, 1993
K M, Gibson, F, Stellaard, G F, Hoffmann, D, Rating, M, Hrebicek, C, Jakobs   +5 more
openaire   +2 more sources

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

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 ...
Haas, D., Niklowitz, P., Horster, F., Baumgartner, E.R., Prasad, C., Rodenburg, R.J.T., Rodenburg, R.J.T., Hoffmann, G.F., Menke, T., Okun, J.G.   +9 more
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