Morquio A Syndrome: Diagnosis and Current and Future Therapies

Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroit...

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Publicado no:Pediatr Endocrinol Rev
Main Authors: Tomatsu, Shunji, Yasuda, Eriko, Patel, Pravin, Ruhnke, Kristen, Shimada, Tsutomu, Mackenzie, William G., Mason, Robert, Thacker, Mihir M., Theroux, Mary, Montaño, Adriana M., Alméciga-Díaz, Carlos J., Barrera, Luis A., Chinen, Yasutsugu, Sly, William S., Rowan, Daniel, Suzuki, Yasuyuki, Orii, Tadao
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259875/
https://ncbi.nlm.nih.gov/pubmed/25345096
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