Literature DB >> 6778700

Fucosidosis: severe phenotype with survival to adult age.

O Søvik, S O Lie, G Fluge, F Van Hoof.   

Abstract

A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age.

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Year:  1980        PMID： 6778700     DOI： 10.1007/bf00441644

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

1.  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

2.  The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

Authors:  F Van Hoof; H G Hers
Journal:  Eur J Biochem       Date:  1968-12

3.  Letter: Genetic heterogeneity in fucosidosis.

Authors:  R Gatti; C Borrone; X Trias; P Durand
Journal:  Lancet       Date:  1973-11-03       Impact factor: 79.321

4.  Letter: Genetic heterogeneity in fucosidosis.

Authors:  B G Kousseff; N G Beratis; C Danesino; K Hirschhorn
Journal:  Lancet       Date:  1973-12-15       Impact factor: 79.321

5.  Mucopolysaccharidosis by absence of alpha-fucosidase.

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

6.  The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease.

Authors:  J Libert; M Tondeur; F Van Hoof
Journal:  Birth Defects Orig Artic Ser       Date:  1976

7.  Fucosidosis: ultrastructural study of conjunctiva and skin and enzyme analysis of tears.

Authors:  J Libert; F Van Hoof; M Tondeur
Journal:  Invest Ophthalmol       Date:  1976-08

8.  Fucosidosis type 2.

Authors:  B G Kousseff; N G Beratis; L Strauss; P W Brill; R E Rosenfield; B Kaplan; K Hirschhorn
Journal:  Pediatrics       Date:  1976-02       Impact factor: 7.124

9.  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
  9 in total
  1 in total

1.  Fucosidosis: ultrastructural study of the eye in an adult.

Authors:  M Hoshino; T P O'Brien; J M McDonnell; Z C de la Cruz; W R Green
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1989       Impact factor: 3.117
  1 in total

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