|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
MPS IIIB is the most frequent subtype among MPS III in the Taiwanese population.
|
30070758 |
2018 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively.
|
28921412 |
2018 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
Similar profiles were observed when analyzing data from MPS IIIA and MPS IIIB samples separately, with only limited age variations in 36 metabolites.
|
28382573 |
2017 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, this was not observed in MPS IIIA and MPS IIIB fibroblasts.
|
27016302 |
2016 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls.
|
27590925 |
2016 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) - causing MPS IIIA, NAGLU (coding for alpha-N-acetylglucosaminidase) - causing MPS IIIB, HGSNAT (coding for acetyl CoA alpha-glucosaminide acetyltransferase) - causing MPS IIIC), and GNS (coding for N-acetylglucosamine-6-sulfatase) - causing MPS IIID.
|
27100513 |
2016 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We typed the 2 single-nucleotide polymorphisms that tag the common haplotypes of NAGLU in 926 PD patients and 2308 controls and also stained cortical tissue from 2 cases of Sanfilippo A syndrome using the anti-α-synuclein antibody, Per7.
|
22102531 |
2012 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
MPS III results from a deficiency in one of the four enzymes involved in the heparan sulfate degradation, with sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), acetyl-coenzyme A: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS) being deficient respectively in MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID.
|
21910976 |
2011 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years.
|
14984474 |
2004 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
BEFREE |
MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with sulfamidase (SGSH) being deficient in MPS IIIA and a-N-acetylglucosaminidase (NAGLU) deficient in MPS IIIB.
|
11793481 |
2002 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For MPS-IIIA and MPS-IIIB many of the reported mutations are unique making screening the general population difficult.
|
11668611 |
2001 |
|
Mucopolysaccharidosis Type IIIA
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|