Literature DB >> 823960

Corneal clouding in GM1-generalized gangliosidosis.

A Babarik, P F Benson, A H Fensom.   

Abstract

Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.

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Year:  1976        PMID： 823960      PMCID： PMC1042749          DOI： 10.1136/bjo.60.8.565

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


  23 in total

1.  FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".

Authors:  B H LANDING; F N SILVERMAN; J M CRAIG; M D JACOBY; M E LAHEY; D L CHADWICK
Journal:  Am J Dis Child       Date:  1964-11

2.  GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

Authors:  J S O'BRIEN; M B STERN; B H LANDING; J K O'BRIEN; G N DONNELL
Journal:  Am J Dis Child       Date:  1965-04

3.  Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease.

Authors:  R M NORMAN; H URICH; A H TINGEY; R A GOODBODY
Journal:  J Pathol Bacteriol       Date:  1959-10

4.  A newly recognized forme fruste of Hurler's disease (gargoylism).

Authors:  H G SCHEIE; G W HAMBRICK; L A BARNESS
Journal:  Am J Ophthalmol       Date:  1962-05       Impact factor: 5.258

5.  GM1-generalized gangliosidosis variant with cardiomegaly.

Authors:  P F Benson; A Barbarik; S P Brown; T P Mann
Journal:  Postgrad Med J       Date:  1976-03       Impact factor: 2.401

6.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

7.  Gargoylism; a mucopolysaccharidosis.

Authors:  G BRANTE
Journal:  Scand J Clin Lab Invest       Date:  1952       Impact factor: 1.713

8.  Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.

Authors:  A Babarik; P F Benson; M F Dean; H Muir
Journal:  Lancet       Date:  1974-08-24       Impact factor: 79.321

9.  Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease.

Authors:  K Suzuki; I Rapin; Y Suzuki; N Ishii
Journal:  Neurology       Date:  1970-02       Impact factor: 9.910

10.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728
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  2 in total

1.  GM1 gangliosidosis, type 2: ocular clinicopathologic correlation.

Authors:  L J Cairns; W R Green; H S Singer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1984       Impact factor: 3.117

2.  Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis.

Authors:  Joane Le Carré; Daniel F Schorderet; Sandra Cottet
Journal:  Mol Vis       Date:  2011-05-07       Impact factor: 2.367
  2 in total

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