Goldberg Disease
General: Unclassified syndrome with features of 535b16f mucopolysaccharidoses, sphingolipidoses, and mucolipidoses; deficiency of neuraminidase; located in chromosome 20q 13.1.
Ocular: Macular cherry-red spot; corneal clouding; cerebromacular degeneration.
Clinical: Dwarfism; gargoyle facies; mental retardation; seizures; hearing disorder.
Goldberg MF, et al. Macular cherry red spot, corneal clouding and beta galactosidase deficiency. Arch Intern Med 1971; 128:387.
Maumenee AE, Emery JM. An anatomic classification of diseases of the macula. Am J Ophthalmol 1972; 74: 594-599.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Thomas GH, et al. Neuraminidase deficiency in the original patient with the Goldberg syndrome. Clin Genet 1979; 16:323-330.
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