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Results 1 - 6 of 6 for cholesterol storage disease
  1. Sitosterolemia 
    ... the condition. Beta-sitosterolemia Phytosterolaemia Phytosterolemia Plant sterol storage disease Sitosterolaemia ... Berge KE. Sitosterolemia: a gateway to new knowledge about cholesterol metabolism. Ann Med. 2003;35(7):502-11. ...
    https://medlineplus.gov/genetics/condition/sitosterolemia - Genetics
  2. Lysosomal acid lipase deficiency 
    ... on PubMed Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013 Jun;56(6):682-5. doi: 10.1097/MPG.0b013e31828b36ac. Citation on PubMed
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  3. Glycogen storage disease type I 
    Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  4. Cerebrotendinous xanthomatosis 
    ... of the condition. Cerebral cholesterinosis Cerebrotendinous cholesterinosis Cholestanol storage disease Cholestanolosis CTX Van Bogaert-Scherer-Epstein disease Genetic ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  5. Niemann-Pick disease 
    ... cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Genetic Testing Registry: Niemann-Pick disease, type C1 Genetic Testing Registry: Niemann-pick disease, ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  6. LIPA gene 
    ... Structural bases of Wolman disease and cholesteryl ester storage disease. Mol Genet Metab. 2012 Feb;105(2):244- ... I, Desnick RJ. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in ...
    https://medlineplus.gov/genetics/gene/lipa - Genetics