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disease > genetic disease > hereditary disease > Dorfman-Chanarin syndrome
disease > metabolic diseases > Dorfman-Chanarin syndrome
disease > striated muscle disease > myopathy > Dorfman-Chanarin syndrome
disease > genetic disease > hereditary disease > storage disease > Dorfman-Chanarin syndrome
disease > enzymopathy > storage disease > Dorfman-Chanarin syndrome

Término preferido

Dorfman-Chanarin syndrome  

Definición

  • Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), muscle, liver, fibroblasts, and other tissues. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-L0JL9X6F-K

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