TMEM165 Deficiency: Postnatal Changes in Glycosylation

Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndro...

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Publicat a:JIMD Rep
Autors principals: Schulte Althoff, S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R., Marquardt, T.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580733/
https://ncbi.nlm.nih.gov/pubmed/26238249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_455
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