Results 141 to 149 of about 4,456 (149)

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

Modern Rheumatology, 2019
Ikue Hata, Osamu Ohara, Nami Okamoto
exaly  

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Human Mutation, 2006
Hans Waterham
exaly  

Biochemical and genetic aspects of mevalonate kinase and its deficiency

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2000
Hans Waterham, Ronald Wanders, Sander Houten   +2 more
exaly  

The effect of clodronate on a mevalonate kinase deficiency cellular model

Inflammation Research, 2012
Elisa Piscianz, Lorenzo Monasta, Bianco Am   +2 more
exaly  

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature

Clinical Rheumatology, 2014
Paul Brogan, Brogan Paul A
exaly  

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency

American Journal of Medical Genetics Part A, 1998
Alfried Kohlschütter, Ralph Fingerhut, K Michael Gibson   +2 more
exaly  

Mevalonate kinase deficiency nomenclature

2014
Stoffels, M., van der Meer, J.W.M., van der Meer, J.W.M., Simon, A., Simon, A.   +4 more
openaire  

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease

Pediatric Dermatology
Negar Esfandiari
exaly  

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess

Indian Journal of Pediatrics
Anurupa Popuri, Nikhil Rajvanshi, Nagaraja Venigalla   +2 more
openaire   +2 more sources