Fucosidosis: genetic and biochemical analysis of eight cases.

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

1987 • 2,333 citations

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

1995 • 748 citations

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

1991 • 491 citations

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

1995 • 201 citations

Fucosidosis revisited: A review of 77 patients

1991 • 164 citations

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

1993 • 147 citations

MUCOPOLYSACCHARIDOSIS BY ABSENCE OF α-FUCOSIDASE

1968 • 133 citations

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

1987 • 92 citations

A NEW MUCOPOLYSACCHARIDE LIPIDSTORAGE DISEASE?

1966 • 89 citations

The laboratory diagnosis of sanfilippo disease

1977 • 69 citations

Allogeneic bone marrow transplantation for fucosidosis.

1995 • 50 citations

Human α-L-fucosidase: Complete coding sequence form cDNA clones

1989 • 45 citations

Linkage of plasma α‐L‐fucosidase (FUCA2) and the plasminogen (PLG) system

1984 • 43 citations

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

1992 • 39 citations

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

1986 • 36 citations

Isolation and sequence analysis of a cDNA encoding rat liver α-<scp>l</scp>-fucosidase

1989 • 32 citations

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

1994 • 31 citations

The molecular defect underlying canine fucosidosis.

1996 • 31 citations

Intrafamilial variability in fucosidosis

1988 • 27 citations

Radioimmunoassay determinations of decreased amounts of α-L-fucosidase protein in fucosidosis

1982 • 27 citations

Fucosidosis: four new mutations and a new polymorphism

1993 • 26 citations

Molecular Biology of the Alpha-L-Fucosidase Gene and Fucosidosis

1987 • 24 citations

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

1989 • 22 citations

A 5' splice site mutation in fucosidosis.

1993 • 18 citations

Analysis of purified human liver α-<scp>l</scp>-fucosidase by western-blotting with lectins and polyclonal and monoclonal antibodies

1992 • 17 citations

In vitro expression of α-l-fucosidase activity polymorphism observed in plasma

1983 • 17 citations

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

1993 • 16 citations

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

1988 • 16 citations

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

1994 • 11 citations

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

1992 • 10 citations

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

1994 • 8 citations

A nonsense mutation in two German patients with fucosidosis

1995 • 6 citations

Another unusual case of fucosidosis

1995 • 5 citations

A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;

1996 • 4 citations

Sampling of foetal blood.

1968 • 1 citations