Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells

MeSH terms

• Acetamides
• Cells, Cultured
• Electrophoresis, Starch Gel
• Fibroblasts / enzymology*
• Fucose
• Galactosidases / analysis
• Glycoside Hydrolases / analysis
• Hexosaminidases / analysis
• Humans
• In Vitro Techniques
• Lysosomes / enzymology*
• Mannose
• Methods
• Mucopolysaccharidosis I / blood
• Mucopolysaccharidosis I / enzymology
• Mucopolysaccharidosis I / genetics*
• Skin / enzymology
• Spectrophotometry
• Sulfatases / analysis
• Syndrome
• Temperature