×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
BEFREE
Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal storage disorder caused by over 130 mutations in NAGLU gene.23380547 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.
23661660 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
BEFREE
NAG activity is deficient in cells from patients with Mucopolysaccharidosis type IIIB (MPS IIIB) due to mutations in NAGLU , the gene that encodes NAG.
23840811 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
23380547 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
23100014 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
22976768 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
22976768 2013
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
23084433 2012
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
21712855 2012
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
Biomarker
BEFREE
This led to the identification of compound heterozygous mutations in NAGLU , compatible with the diagnosis of Mucopolysaccharidosis IIIB (MPS IIIB or Sanfilippo Syndrome type B ).
21712855 2012
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
21204211 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
21910976 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
Biomarker
GENOMICS_ENGLAND
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
21204211 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992 2011
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
20852935 2010
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
20852935 2010
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
BEFREE
Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported.
20138557 2010
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.
20040070 2010
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
AlteredExpression
BEFREE
She had marked reduction of her α-N-acetylglucosaminidase activity assay consistent with the diagnosis of mucopolysaccharidosis type IIIB .
20197271 2010
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
Biomarker
BEFREE
Sanfilippo syndrome type B (MPS III B) is caused by a deficiency of alpha-N-acetylglucosaminidase enzyme (Naglu), leading to accumulation of heparan sulfate (HS), a glycosaminoglycan (GAG), within lysosomes and to eventual progressive cerebral and systemic multiple organ abnormalities.19399896 2009
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
BEFREE
Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B ) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia.19416848 2009
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
CausalMutation
CLINVAR
Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.
19046346 2009
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
MPS III B
0.800
GeneticVariation
CLINVAR
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
18218046 2008