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My journey into the world of sphingolipids and sphingolipidoses
Analysis of lipid storage in postmortem brains of patients with amaurotic idiocy led to the recognition of five lysosomal ganglioside storage diseases and identification of their inherited metabolic blocks. Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene str...
Autor principal: | SANDHOFF, Konrad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japan Academy
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552047/ https://www.ncbi.nlm.nih.gov/pubmed/23229750 http://dx.doi.org/10.2183/pjab.88.554 |
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