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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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Autors principals: Haas, Dorothea, Hoffmann, Georg F
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1475558/
https://ncbi.nlm.nih.gov/pubmed/16722536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-1-13
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