Literature DB >> 4999185

Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

M F Goldberg, E Cotlier, L G Fichenscher, K Kenyon, R Enat, S A Borowsky.   

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Year:  1971        PMID: 4999185

Source DB:  PubMed          Journal:  Arch Intern Med        ISSN: 0003-9926


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  17 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

3.  Absence of arylsulphatases A and B in suction blister fluid interstitial fluid and serum.

Authors:  G Volden
Journal:  Arch Dermatol Res       Date:  1977-09-27       Impact factor: 3.017

Review 4.  The map of chromosome 20.

Authors:  N E Simpson
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

5.  Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.

Authors:  O T Mueller; W M Henry; L L Haley; M G Byers; R L Eddy; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1986-03       Impact factor: 11.205

Review 6.  The efficacy of conjunctival biopsy as a screening technique in lysosomal storage disorders.

Authors:  M L Mazow
Journal:  Trans Am Ophthalmol Soc       Date:  1987

7.  Conjunctival biopsy in adult form galactosialidosis.

Authors:  T Usui; S Sawaguchi; H Abe; K Iwata; K Oyanagi
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

8.  Tay-Sachs' disease and Fabry's disease: clinical and chemical diagnosis of two metabolic eye diseases.

Authors:  E Cotlier
Journal:  Bull N Y Acad Med       Date:  1974 Jul-Aug

9.  Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.

Authors:  T Kobayashi; M Ohta; I Goto; Y Tanaka; Y Kuroiwa
Journal:  J Neurol       Date:  1979-09       Impact factor: 4.849

10.  beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

Authors:  Y Suzuki; N Nakamura; K Fukuoka; Y Shimada; M Uono
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

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