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Open Access Green as soon as Postprint is submitted to ZB.
Severe ichthyosis in MPDU1-CDG.
J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
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 infantile ichthyosis disorders.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Disorder
ISSN (print) / ISBN
0141-8955
e-ISSN
1573-2665
Quellenangaben
Volume: 41,
Issue: 6,
Pages: 1293-1294
Publisher
Springer
Publishing Place
Van Godewijckstraat 30, 3311 Gz Dordrecht, Netherlands
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)