Results 111 to 120 of about 4,456 (149)

Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study. [PDF]

Biomed Res Int, 2013
Tricarico PM, Kleiner G, Piscianz E, Zanin V, Monasta L, Crovella S, Marcuzzi A.   +6 more
europepmc   +1 more source

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency. [PDF]

Medicine (Baltimore), 2016
Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A.   +29 more
europepmc   +1 more source

Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients

Pediatric Rheumatology Online Journal, 2008
Florkin B, Cuisset L, Acquaviva-Bourdain C, Rabier D, Neven B, Quartier P, Prieur AM   +6 more
doaj   +1 more source

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis

Ginekologia Polska
Aleksandra Mikolajczak, Katarzyna Bernat-Sitarz   +1 more
doaj   +1 more source

IL-1β and mevalonate kinase deficiency

, 2008
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Mevalonate Kinase Deficiency

2019
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations.
Joost Frenkel, Anna Simon, Simon Anna
exaly   +3 more sources

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

European Journal of Pediatrics, 1988
Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father
W L Nyhan, Smit G P A, Berger R
exaly   +4 more sources

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular Genetics and Metabolism, 2012
Mevalonate 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.
Marina I Salvadori
exaly   +3 more sources

Mevalonate kinase deficiency, a metabolic autoinflammatory disease

Clinical Immunology, 2013
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment. Mutations in both copies of the MVK-gene lead to a block in the mevalonate pathway. Interleukin-1beta mediates the inflammatory phenotype.
Nienke M Ter Haar
exaly   +3 more sources

Mevalonate kinase deficiency nomenclature

Rheumatology International, 2013
In the letter of Celsi et al. [1], the authors suggest dropping the names of hyper-IgD syndrome (HIDS) and mevalonate kinase deficiency (MKD) for this hereditary syndrome. They base their conclusion upon the fact that there is no correlation between serum IgD concentration and disease severity, that not all HIDS patients show elevated IgD, and that ...
Stoffels, M., Meer, J.W.M. van der, Simon, A.   +2 more
openaire   +3 more sources