Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.
D000328:Adult; D002648:Child; D003241:Consanguinity; D003315:Cornea; D004392:Dwarfism / Q000201:enzymology / Q000235:genetics; D005128:Eye Diseases / Q000201:enzymology / Q000235:genetics; D005132:Eye Manifestations; D005260:Female; D005696:Galactosidases / Q000378:metabolism*; D006026:Glycoside Hydrolases / Q000378:metabolism; D006311:Hearing Disorders / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008099:Liver / Q000201:enzymology; D008266:Macula Lutea; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D012640:Seizures / Q000201:enzymology / Q000235:genetics; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000378:metabolism
D013429:Sulfatases; D005696:Galactosidases; D006026:Glycoside Hydrolases