A New Case of Schindler Disease

Lysosomal storage disorders (LSDs) are a group of genetic disorders caused by mutations in genes encoding enzymes involved in lysosomal function. Schindler disease is an autosomal recessive, inherited LSD caused by defective or non-existent activity of the enzyme α-N-acetylgalactosaminidase (α-NAGA)...

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Detalles Bibliográficos
Autores principales: Castro, Ruben García, Pérez, Ana María González, Curto, María Concepción Román, Álvarez, Javier Cañueto, Ferreirós, Alberto Conde, Cuadros, Alex Viñolas, Bueno, David Moyano, Fernández, Antonio Javier Chamorro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886627/
https://www.ncbi.nlm.nih.gov/pubmed/31890708
http://dx.doi.org/10.12890/2019_001269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886627/
https://www.ncbi.nlm.nih.gov/pubmed/31890708
http://dx.doi.org/10.12890/2019_001269

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