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Lysosomal lipid storage disorder
- Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect ...
- Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate ...
- Lipid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- The CLN3 gene provides instructions for making a protein that is found in tissues throughout the body, yet its function is unclear. The CLN3 protein is found ...
- 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 ...
- ... Blum NJ, et al. Defects in metabolism of lipids. In: Kliegman RM, ... storage diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil ...
- ... 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
- Leukodystrophies/Specifics ... Leukodystrophies ... Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous ...
- Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Leukodystrophy ...