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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| 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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