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Genetic disorders of dolichol synthesis and utilization

Eline Pieters1, Jaak Jaeken2, Matthew P Wilson1

  • 1Laboratory for Molecular Diagnosis, Department of Human Genetics, KU Leuven, Leuven, Belgium.

Molecular Genetics and Metabolism
|September 3, 2025
PubMed
Abstract

Keywords:
ALG5Congenital disorders of glycosylationDHDDSDHRSXDOLKDPAGT1DPM1DPM2DPM3DolicholDolichol synthesis defectsEpilepsyGlycobiologyIntellectual disabilityMPDU1N-linked glycosylationNUS1PolyisoprenoidsSRD5A3

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