Literature DB >> 8384473

Conjunctival biopsy in adult form galactosialidosis.

T Usui1, S Sawaguchi, H Abe, K Iwata, K Oyanagi.   

Abstract

Conjunctival biopsy was performed in two siblings with adult-form galactosialidosis. Electron microscopically, several types of intracytoplasmic inclusion were observed in the fibroblasts in conjunctival stroma, lymphatic capillary endothelial cells, Schwann cells, and epithelial cells. Membrane-bound vesicles with fibrillogranular content were frequently observed, and occasional lamellar structures were noted in these inclusions. Dense granular inclusions and oil droplets were also seen. Dense granular inclusions have not been reported in this disease previously.

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Year:  1993        PMID： 8384473      PMCID： PMC504463          DOI： 10.1136/bjo.77.3.165

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  12 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Adult-form galactosialidosis: ocular findings in three cases.

Authors:  T Usui; M Takagi; H Abe; K Iwata; S Tsuji; T Miyatake
Journal:  Ophthalmologica       Date:  1991       Impact factor: 3.250

Review 3.  [Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis].

Authors:  K Miyashita; N Miyatani; H Yoshino; S Tsuji; T Miyatake
Journal:  Rinsho Shinkeigaku       Date:  1989-10

4.  Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.

Authors:  S Palmeri; A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

5.  Adult type neuronal storage disease with neuraminidase deficiency.

Authors:  T Miyatake; T Atsumi; T Obayashi; Y Mizuno; S Ando; T Ariga; K Matsui-Nakamura; T Yamada
Journal:  Ann Neurol       Date:  1979-09       Impact factor: 10.422

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

Authors:  M F Goldberg; E Cotlier; L G Fichenscher; K Kenyon; R Enat; S A Borowsky
Journal:  Arch Intern Med       Date:  1971-09

7.  Late-infantile type galactosialidosis. Histopathology of the retina and optic nerve.

Authors:  T Usui; S Sawaguchi; H Abe; K Iwata; K Oyanagi
Journal:  Arch Ophthalmol       Date:  1991-04

8.  Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Authors:  A D'Azzo; A Hoogeveen; A J Reuser; D Robinson; H Galjaard
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

9.  Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein.

Authors:  F W Verheijen; S Palmeri; A T Hoogeveen; H Galjaard
Journal:  Eur J Biochem       Date:  1985-06-03

10.  The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis.

Authors:  P Strisciuglio; G Parenti; C Giudice; S Lijoi; A T Hoogeveen; A d'Azzo
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132
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