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Lysosomal lipid storage disorder
- Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into ...
- ... lack of functional mucolipin-1 impairs transport of lipids and proteins, ... lysosomal storage disorders. Two mutations in the MCOLN1 gene account for ...
- ... 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
- ... to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels ...