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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Disorder
ISSN (print) / ISBN 0141-8955
e-ISSN 1573-2665
Zeitschrift Journal of Inherited Metabolic Disease
Quellenangaben Band: 41, Heft: 6, Seiten: 1293-1294 Artikelnummer: , Supplement: ,
Verlag Springer Science+Business Media B.V ; Kluwer Academic Publishers
Verlagsort Van Godewijckstraat 30, 3311 Gz Dordrecht, Netherlands
Begutachtungsstatus