Literature DB >> 404410

GM1 gangliosidosis type 1 in twins.

C M Ginsburg, C G Long.   

Abstract

This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants.

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Year:  1977        PMID： 404410      PMCID： PMC1013530          DOI： 10.1136/jmg.14.2.132

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 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

Review 2.  THE GANGLIOSIDES.

Authors:  L SVENNERHOLM
Journal:  J Lipid Res       Date:  1964-04       Impact factor: 5.922

3.  Cerebral GM1-gangliosidosis: chemical pathology of visceral organs.

Authors:  K Suzuki
Journal:  Science       Date:  1968-03-29       Impact factor: 47.728

4.  GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

Authors:  L S Wolfe; J Callahan; J S Fawcett; F Andermann; C R Scriver
Journal:  Neurology       Date:  1970-01       Impact factor: 9.910

5.  Generalized gangliosidosis.

Authors:  J O'Brien
Journal:  J Pediatr       Date:  1969-08       Impact factor: 4.406

6.  Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors:  H L Nadler; A B Gerbie
Journal:  N Engl J Med       Date:  1970-03-12       Impact factor: 91.245

7.  Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

Authors:  D M Derry; J S Fawcett; F Andermann; L S Wolfe
Journal:  Neurology       Date:  1968-04       Impact factor: 9.910

8.  Generalized gangliosidosis: beta-galactosidase deficiency.

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

1.  Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.

Authors:  Imad Dweikat; Bassam Abu Libdeh; Hanadi Murrar; Samir Khalil; Nizar Maraqa
Journal:  Indian J Dermatol       Date:  2011-01       Impact factor: 1.494
  1 in total

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