Results 111 to 120 of about 426 (123)

Mevalonic aciduria

2005
openaire   +1 more source

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria

Yearbook of Pediatrics, 2009
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
Alexandre Umpierrez Amaral, Rafael Teixeira Ribeiro, Carmen Regla Vargas   +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
Sander M Houten, Maja Di Rocco, Bwee Tien Poll-The   +2 more
exaly  

Mevalonic aciduria and hyper‐IgD syndrome: Two sides of the same coin?

Journal of Inherited Metabolic Disease, 2001
M, Tsimaratos, I, Kone-Paut, P, Divry, N, Philip, B, Chabrol   +4 more
openaire   +2 more sources

The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria

Medical Hypotheses, 2008
Peter Celec, Michal Behuliak
exaly  

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human Molecular Genetics, 1999
Sander M Houten
exaly  

Mevalonic aciduria.

Hepatology (Baltimore, Md.), 1988
openaire   +1 more source

[Mevalonic aciduria].

Ryoikibetsu shokogun shirizu, 1998
openaire   +1 more source

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

American Journal of Transplantation, 2012
exaly