The genetic mucolipidoses
Copyright policy )The genetic mucolipidoses
This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”. In Gm1 gangliosidosis types I and II, Fucosidosis, Mannosidosis and in infantile Sulfatidosis with mucopolysacchariduria enzyme defects have been identified which are thought to be causally related to the diseases. In others the pathogenesis is unknown. They are tentatively named Mucolipidosis I, II and III.
- University of Wisconsin–Madison United States
- University of Wisconsin–Oshkosh United States
- Kiel University Germany
Male, Leg, Hip, Infant, Bone Marrow Examination, Mucopolysaccharidoses, Hand, Lipid Metabolism, Diagnosis, Differential, Child, Preschool, Gangliosides, Humans, Female, Glycolipids, Child, Mannose, Phospholipids, Carbohydrate Metabolism, Inborn Errors, Fucose, Glycosaminoglycans
Male, Leg, Hip, Infant, Bone Marrow Examination, Mucopolysaccharidoses, Hand, Lipid Metabolism, Diagnosis, Differential, Child, Preschool, Gangliosides, Humans, Female, Glycolipids, Child, Mannose, Phospholipids, Carbohydrate Metabolism, Inborn Errors, Fucose, Glycosaminoglycans
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