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Article

Inherited disorders of cholesterol biosynthesis.

Neuropediatrics - 1 Jun 2001

Haas D, Kelley R I, Hoffmann G F

Abstract excerpt

Defects of cholesterol biosynthesis comprise a heterogeneous group of disorders, most of which have only been recently described and more are likely to follow in the near future. Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) are due to allelic defects in mevalonate kinase, an enzyme located proximally in the pathway of cholesterol and nonsterol isoprene biosynthesis. Clinically, patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulin D

Share to Lipid Metabolism, Inborn Errors

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Share to Phosphotransferases (Alcohol Group Acceptor)

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Source

Identifiers

PMID: 11521206
DOI: 10.1055/s-2001-16618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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