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Gaucher Disease, Type 3 (disorder)

Known as: GAUCHER DISEASE, TYPE III, Gaucher Disease, Juvenile and Adult, Cerebral, Neuronopathic Gaucher Disease 
This type shows moderate to severe neurological effect in childhood.
National Institutes of Health

Related topics

Related topics

13 relations
AtaxiaAutosomal recessive inheritanceGaucher Disease, Type 2 (disorder)Mental Depression

Broader (2)

Gaucher DiseaseLipoidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration
Mutations in the glucosidase, beta, acid (GBA1) gene cause Gaucher’s disease, and are the most common genetic risk factor for… 
Highly Cited
2001
Highly Cited
2001
Gaucher's disease
Highly Cited
2000
Highly Cited
2000
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45). Although >100 mutations in… 
Highly Cited
1997
Highly Cited
1997
Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.
Gaucher's disease is characterized by hepatosplenomegaly, bone-marrow infiltration, osteonecrosis and bone thinning, associated… 
Highly Cited
1993
Highly Cited
1993
Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months.
Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among the Ashkenazi Jews (q… 
Highly Cited
1989
Highly Cited
1989
PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL
Highly Cited
1988
Highly Cited
1988
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single… 
Highly Cited
1987
Highly Cited
1987
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a… 
Highly Cited
1971
Highly Cited
1971
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro.
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a beta-glucosidase (EC 3.2.1.21) isoenzyme… 
Highly Cited
1966
Highly Cited
1966
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
The accumulation of abnormal quantities of glucocerebroside in the reticuloendothelial cells of patients with Gaucher's disease… 
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