Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. [electronic resource]
Producer: 19711130Description: 387-98 p. digitalISSN:- 0003-9926
- Adult
- Child
- Consanguinity
- Cornea
- Dwarfism -- enzymology
- Eye Diseases -- enzymology
- Eye Manifestations
- Female
- Galactosidases -- metabolism
- Glycoside Hydrolases -- metabolism
- Hearing Disorders -- enzymology
- Humans
- Intellectual Disability -- enzymology
- Liver -- enzymology
- Macula Lutea
- Male
- Metabolism, Inborn Errors -- enzymology
- Microscopy, Electron
- Mucopolysaccharidoses -- enzymology
- Pedigree
- Seizures -- enzymology
- Skin -- enzymology
- Sulfatases -- metabolism
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Publication Type: Journal Article
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