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sulfatidóza
Subject h. sulfatidóza Subject h. Sulfatidosis Scope note in English A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage). subject heading
Number of the records: 1