Laddar...

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...

Full beskrivning

Sparad:

Bibliografiska uppgifter
I publikationen:	JIMD Rep
Huvudupphovsmän:	Schulte Althoff, S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R., Marquardt, T.
Materialtyp:	Artigo
Språk:	Inglês
Publicerad:	Springer Berlin Heidelberg 2015
Ämnen:	Article
Länkar:	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
Taggar:	Lägg till en tagg Inga taggar, Lägg till första taggen!

TMEM165 Deficiency: Postnatal Changes in Glycosylation

Liknande verk