Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease

Morton F. Goldberg; Edward Cotlier; Larry G. Fichenscher; Kenneth Kenyon; Rafael Enat; Stephen A. Borowsky

doi:10.1001/archinte.1971.00310210063005

Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease

Morton F. Goldberg, Edward Cotlier, Larry G. Fichenscher, Kenneth Kenyon, Rafael Enat, Stephen A. Borowsky

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

Abstract

A new syndrome which combines clinical features of several storage diseases (mucopolysaccharidoses, sphingolipidoses, and mucolipidoses), but which is nonetheless unique, is characterized by autosomal recessive inheritance and the presence of dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, -galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by the absence of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.

Original language	English (US)
Pages (from-to)	387-398
Number of pages	12
Journal	Archives of internal medicine
Volume	128
Issue number	3
DOIs	https://doi.org/10.1001/archinte.1971.00310210063005
State	Published - Sep 1971
Externally published	Yes

ASJC Scopus subject areas

Internal Medicine

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10.1001/archinte.1971.00310210063005

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Goldberg, M. F., Cotlier, E., Fichenscher, L. G., Kenyon, K., Enat, R., & Borowsky, S. A. (1971). Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease. Archives of internal medicine, 128(3), 387-398. https://doi.org/10.1001/archinte.1971.00310210063005

Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease. / Goldberg, Morton F.; Cotlier, Edward; Fichenscher, Larry G. et al.
In: Archives of internal medicine, Vol. 128, No. 3, 09.1971, p. 387-398.

Research output: Contribution to journal › Article › peer-review

Goldberg, MF, Cotlier, E, Fichenscher, LG, Kenyon, K, Enat, R & Borowsky, SA 1971, 'Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease', Archives of internal medicine, vol. 128, no. 3, pp. 387-398. https://doi.org/10.1001/archinte.1971.00310210063005

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Macular Cherry-Red Spot, Corneal Clouding, and β-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease

Abstract

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