Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy

Mucopolysaccharidosis (MPS) is an inherited metabolic disease caused by deficiency of the enzymes needed for glycosaminoglycan (GAG) degradation. MPS type I is caused by the deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified into Hurler syndrome, Scheie syndrome, and Hurler–Sch...

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Detalles Bibliográficos
Autores principales: Sato, Yohei, Fujiwara, Masako, Kobayashi, Hiroshi, Yoshitake, Michio, Hashimoto, Kazuhiro, Oto, Yuji, Ida, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471400/
https://www.ncbi.nlm.nih.gov/pubmed/28649551
http://dx.doi.org/10.1016/j.ymgmr.2015.10.014

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