Results 111 to 120 of about 443 (126)

Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.

Neuro endocrinology letters, 2010
To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels ...
Ingrid, Brucknerova, Darina, Behulova, Claudia, Sebova, Vladimir, Bzduch, Mojmir, Mach, Michal, Dubovicky, Eduard, Ujhazy   +6 more
openaire   +1 more source

People also looked at

Frontiers in Immunology, 2021
Ho Joon Im, Beom Hee Lee, Kyung-Nam Koh
exaly  

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

Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria

American Journal of Transplantation, 2012
S Chaudhury, E M Alonso, P F Whitington
exaly  

Mevalonic aciduria

2005
openaire   +1 more source

Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria

Neurochemistry International, 2017
Rafael Teixeira Ribeiro, Moacir Wajner, Alexandre Umpierrez Amaral   +2 more
exaly  

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

Clinica Chimica Acta, 1991
Viktor Kožich, Georg Friedrich Hoffmann, Josef Hyánek   +2 more
exaly  

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

European Journal of Human Genetics, 2001
Hans R Waterham, Joost Frenkel, Sander M. Houten   +2 more
exaly  

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Yearbook of Pediatrics, 2009
openaire   +1 more source