Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

OBJECTIVE: Mucopolysaccharidosis IIIA or Sanfilippo disease type A is a progressive neurodegenerative disorder presenting in early childhood, caused by an inherited deficiency of the lysosomal hydrolase sulfamidase. New missense mutations, for which genotype–phenotype correlations are currently unkn...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Ann Neurol
Asıl Yazarlar: Knottnerus, Suzan J. G., Nijmeijer, Stephanie C. M., IJlst, Lodewijk, te Brinke, Heleen, van Vlies, Naomi, Wijburg, Frits A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5725696/
https://ncbi.nlm.nih.gov/pubmed/29023963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25069
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller