Literature DB >> 7837199

Angiokeratoma corporis diffusum in fucosidosis.

S George1, R A Graham-Brown.   

Abstract

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Year:  1994        PMID： 7837199      PMCID： PMC1294944          DOI： 10.1177/014107689408701124

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   18.000


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

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

3.  Deficiency of alpha-L-fucosidase.

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

Review 4.  Fucosidosis revisited: a review of 77 patients.

Authors:  P J Willems; R Gatti; J K Darby; G Romeo; P Durand; J E Dumon; J S O'Brien
Journal:  Am J Med Genet       Date:  1991-01

5.  Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.

Authors:  N G Beratis; A Varvarigou-Frimas; S Beratis; S L Sklower
Journal:  Clin Genet       Date:  1989-07       Impact factor: 4.438

6.  Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum.

Authors:  T Kanzaki; M Yokota; N Mizuno; Y Matsumoto; Y Hirabayashi
Journal:  Lancet       Date:  1989-04-22       Impact factor: 79.321

7.  Angiokeratoma corporis diffusum in a patient with normal enzyme activities.

Authors:  R C Holmes; A H Fensom; P McKee; R J Cairns; M M Black
Journal:  J Am Acad Dermatol       Date:  1984-02       Impact factor: 11.527

8.  A 5' splice site mutation in fucosidosis.

Authors:  M Williamson; H Cragg; J Grant; K Kretz; J O'Brien; P J Willems; E Young; B Winchester
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

9.  Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

Authors:  D I McCallum; R F Macadam; A W Johnston
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318
  9 in total
  2 in total

Review 1.  An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).

Authors:  Shao-Jia Mao; Jia Zhao; Zheng Shen; Chao-Chun Zou
Journal:  BMC Pediatr       Date:  2022-07-11       Impact factor: 2.567

Review 2.  Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Authors:  Karolina M Stepien; Elżbieta Ciara; Aleksandra Jezela-Stanek
Journal:  Genes (Basel)       Date:  2020-11-22       Impact factor: 4.096
  2 in total

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