Severe ichthyosis in MPDU1-CDG.

doi:10.1007/s10545-018-0189-9

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Article

Severe ichthyosis in MPDU1-CDG.

Journal of inherited metabolic disease - 1 Nov 2018

Thiel Christian, Wortmann Saskia, Riedhammer Korbinian, Alhaddad Bader, Mayatepek Ertan, Prokisch Holger, Distelmaier Felix

Abstract excerpt

Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of...

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PMID: 29721919
DOI: 10.1007/s10545-018-0189-9

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MPDU1

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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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