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pro vyhledávání: '"João Moreno Filho"'
Autor:
Dimas Castilha-Neto, Letícia Fernandes Monteiro, Mirella Maccarini Peruchi, João Moreno Filho, Aline Vieira Scarlatelli-Lima, Jaime Lin
Publikováno v:
Clinics and Practice, Vol 2, Iss 4 (2012)
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with
Externí odkaz:
https://doaj.org/article/933fa20d5c8740b48d9fe500d254996b
Autor:
Mirella Maccarini Peruchi, Jaime Lin, Letícia Fernandes Monteiro, Aline Vieira Scarlatelli-Lima, João Moreno Filho, Dimas Castilha-Neto
Publikováno v:
Clinics and Practice, Vol 2, Iss 4 (2012)
Clinics and Practice
Clinics and Practice
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with