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pro vyhledávání: '"María Concepción Román Curto"'
Autor:
Rubén García Castro, Ana María González Pérez, María Concepción Román Curto, Javier Cañueto Álvarez, Alberto Conde Ferreirós, Alex Viñolas Cuadros, David Moyano Bueno, Antonio Javier Chamorro Fernández
Publikováno v:
European Journal of Case Reports in Internal Medicine (2019)
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
Externí odkaz:
https://doaj.org/article/6936c6b82af5404b8facec06ccd7907c
Autor:
María Concepción Román Curto, Javier Cañueto Álvarez, Alberto Conde Ferreirós, Ana María González Pérez, Alex Viñolas Cuadros, Antonio Javier Chamorro Fernández, Rubén García Castro, David Moyano Bueno
Publikováno v:
European Journal of Case Reports in Internal Medicine
European Journal of Case Reports in Internal Medicine (2019)
European Journal of Case Reports in Internal Medicine (2019)
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