Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been...

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Detalles Bibliográficos
Autores principales: Haas, Dorothea, Hoffmann, Georg F
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475558/
https://www.ncbi.nlm.nih.gov/pubmed/16722536
http://dx.doi.org/10.1186/1750-1172-1-13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475558/
https://www.ncbi.nlm.nih.gov/pubmed/16722536
http://dx.doi.org/10.1186/1750-1172-1-13

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