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Niemann-Pick Disease: Understanding the Rare Genetic Disorder 1. Introduction Niemann-Pick Disease (NPD) refers to a group of rare, inherited metabolic disorders that are characterized by the abnormal accumulation of lipids (fats) within cells throughout the body. This accumulation leads to the impairment of cell function and, consequently, the progressive deterioration of multiple organs and systems….
Mucolipidoses: Understanding the Rare Genetic Disorder Introduction Mucolipidoses is a group of inherited metabolic disorders characterized by the body’s inability to break down certain materials, leading to the accumulation of these substances in cells. This can result in a wide range of symptoms affecting various organ systems. Symptoms The symptoms of mucolipidoses can vary widely…