Oral Manifestations in patients and dogs with mucopolysaccharidosis type VII

Mucopolysaccharidosis Type VII (MPS7, also called β-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene. β-glucuronidase (GUSB) is a lysosomal hydrolase involved in the stepwise degradation of...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: Kantaputra, Piranit Nik, Smith, Lachlan J, Casal, Margret L, Kuptanon, Chulaluck, Chang, Yu-Cheng, Nampoothiri, Sheela, Paiyarom, Apichai, Veerasakulwong, Thanat, Trachoo, Objoon, Cairns, James R. Ketudat, Chinadet, Wannapa, Tanpaiboon, Pranoot
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6374205/
https://ncbi.nlm.nih.gov/pubmed/30653816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61034
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