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Article

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Journal of inherited metabolic disease - 1 Jan 2015

Wortmann Saskia B, Espeel Marc, Almeida Ligia, Reimer Annette, Bosboom Dennis, Roels Frank, de Brouwer Arjan P M, Wevers Ron A

Abstract excerpt

Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes,...

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Source

Identifiers

PMID: 25178427
DOI: 10.1007/s10545-014-9759-7

Genes

CHKB
DGKE
ABHD12
AGK
DDHD1
DDHD2
PNPLA6
PTDSS1
SERAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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