Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findin...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Korean Pediatric Society 2012
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510273/
https://ncbi.nlm.nih.gov/pubmed/23227063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2012.55.11.430
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia