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
(More)

Broader (2)

Gaucher DiseaseLipoidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to the lysosomal storage disorder… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated… (More)
  • table 1
  • figure 1
  • figure 2
  • table 2
  • table 3
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Randomized, controlled trial of miglustat in Gaucher's disease type 3.
OBJECTIVE To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 2
Is this relevant?
Highly Cited
2003
Highly Cited
2003
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-beta-glucosidase… (More)
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 4
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.
BACKGROUND Current treatment for Gaucher's disease involves administration of intravenous glucocerebrosidase to degrade… (More)
Is this relevant?
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… (More)
Is this relevant?
Review
1997
Review
1997
Gaucher's disease: clinical features and natural history.
Gaucher's disease is an inherited disorder characterized by pathological storage of glycolipid in mononuclear phagocytes: it is a… (More)
Is this relevant?
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… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
1982
Highly Cited
1982
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease.
Three major clinical variants of Gaucher disease have been defined: Type I, chronic nonneuronopathic; Type II, acute… (More)
Is this relevant?
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… (More)
  • table I
  • table II
Is this relevant?