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Type 2 Gaucher disease: the collodion baby phenotype revisited

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder an...

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Detalhes bibliográficos
Main Authors: Stone, D, Carey, W, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1721053/
https://ncbi.nlm.nih.gov/pubmed/10685993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/fn.82.2.F163
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