Fucosidosis: genetic and biochemical analysis of eight cases (Q33678382)

28 July 2017

Fucosidosis: genetic and biochemical analysis of eight cases (English)

1 reference

28 July 2017

1 reference

Cragg H

1

1 reference

28 July 2017

Williamson M

2

1 reference

28 July 2017

Young E

3

1 reference

28 July 2017

O'Brien J

4

1 reference

28 July 2017

Alhadeff J

5

1 reference

28 July 2017

Fang-Kircher S

6

1 reference

28 July 2017

Paschke E

7

1 reference

28 July 2017

Winchester B

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1997

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

34

1 reference

28 July 2017

2

1 reference

28 July 2017

105-110

1 reference

The molecular defect underlying canine fucosidosis.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Fucosidosis: four new mutations and a new polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A 5' splice site mutation in fucosidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A single-base deletion mutation in a Turkish patient with fucosidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Intrafamilial variability in fucosidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Molecular biology of the alpha-L-fucosidase gene and fucosidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Human alpha-L-fucosidase: complete coding sequence from cDNA clones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Isolation and sequence analysis of a cDNA encoding rat liver alpha-L-fucosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Structure and sequence of the human α-l-fucosidase gene and pseudogene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Analysis of purified human liver alpha-L-fucosidase by western-blotting with lectins and polyclonal and monoclonal antibodies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

The laboratory diagnosis of sanfilippo disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Allogeneic bone marrow transplantation for fucosidosis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

A nonsense mutation in two German patients with fucosidosis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050861

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

30 October 2018

1 reference

12 December 2020

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

Sampling of foetal blood

1 reference

12 December 2020

Radioimmunoassay determination of decreased amounts of alpha-L-fucosidase protein in fucosidosis

1 reference

12 December 2020

In vitro expression of alpha-L-fucosidase activity polymorphism observed in plasma

1 reference

12 December 2020

The clinical effects of lysosomal enzyme replacement by bone marrow transplantation after total lymphoid irradiation on neurologic disease in fucosidase deficient dogs

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.2.105

1 reference

28 July 2017

1 reference

28 July 2017

1 reference