Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disabili...

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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Staps, Pippa, van Gaalen, Judith, van Domburg, Peter., Steijlen, Peter M., Ferdinandusse, Sacha, den Heijer, Tom, Seyger, Marieke M. B., Theelen, Thomas, Willemsen, Michèl A. A. P.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7203653/
https://ncbi.nlm.nih.gov/pubmed/32395410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12099
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