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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...

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Detalles Bibliográficos
Autor principal: SANDHOFF, Konrad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japan Academy 2012
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