Literature DB >> 6767848

Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

D I McCallum, R F Macadam, A W Johnston.   

Abstract

Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.

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Year:  1980        PMID： 6767848      PMCID： PMC1048482          DOI： 10.1136/jmg.17.1.21

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


  13 in total

1.  A note on fucosidosis in a mentally subnormal female.

Authors:  D A Primrose
Journal:  J Ment Defic Res       Date:  1975 Sep-Dec

2.  Mucopolysaccharidosis: a new variant?

Authors:  D A Primrose
Journal:  J Ment Defic Res       Date:  1972 Sep-Dec

3.  Mucopolysaccharidosis by absence of alpha-fucosidase.

Authors:  F Van Hoof; H G Hers
Journal:  Lancet       Date:  1968-06-01       Impact factor: 79.321

4.  Deficiency of alpha-L-fucosidase.

Authors:  V Patel; I Watanabe; W Zeman
Journal:  Science       Date:  1972-04-28       Impact factor: 47.728

5.  Fucosidosis.

Authors:  E B Smith; J L Graham; J A Ledman; R D Snyder
Journal:  Cutis       Date:  1977-02

6.  Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

Authors:  C Borrone; R Gatti; X Trias; P Durand
Journal:  J Pediatr       Date:  1974-05       Impact factor: 4.406

7.  Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency.

Authors:  M C Loonen; L Lugt; C L Franke
Journal:  Lancet       Date:  1974-09-28       Impact factor: 79.321

8.  beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.

Authors:  J F Koster; M F Niermeijer; M C Loonen; H Gajaard
Journal:  Clin Genet       Date:  1976-04       Impact factor: 4.438

9.  Fabry's disease: alpha-galactosidase deficiency.

Authors:  J A Kint
Journal:  Science       Date:  1970-02-27       Impact factor: 47.728

10.  Fucosidosis in a native-born Briton.

Authors:  P P Dos Santos; R W Logan
Journal:  J Clin Pathol       Date:  1977-03       Impact factor: 3.411
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  3 in total

1.  FABRY'S DISEASE: A Case Report.

Authors:  Abha K Sabhikhi; P P Verma; P S Reddy; H Kumar; Ramji Rai
Journal:  Med J Armed Forces India       Date:  2017-06-26

2.  Diagnosis of Anderson-Fabry disease.

Authors:  P J Gosling
Journal:  J R Soc Med       Date:  1982-12       Impact factor: 5.344

3.  Angiokeratoma corporis diffusum in fucosidosis.

Authors:  S George; R A Graham-Brown
Journal:  J R Soc Med       Date:  1994-11       Impact factor: 18.000
  3 in total

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