Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
|
24373060 |
2014 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
|
24875751 |
2014 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
|
24221504 |
2014 |
Mucopolysaccharidosis VI
|
|
0.810 |
GeneticVariation
|
BEFREE |
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
|
23633437 |
2013 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
|
23557332 |
2013 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
|
23633437 |
2013 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
|
22441840 |
2012 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
High prevalence of p.R152W mutation in Poland, Belarus and Baltic States indicates a possible founder effect and suggests that screening for this mutation may be appropriate in MPS VI patients from this region.
|
22133300 |
2012 |
Mucopolysaccharidosis VI
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Expert recommendations for the laboratory diagnosis of MPS VI.
|
22405600 |
2012 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.
|
21917494 |
2011 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
|
17458871 |
2007 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].
|
10923267 |
2000 |
Mucopolysaccharidosis VI
|
|
0.810 |
CausalMutation
|
CLINVAR |
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
|
8125475 |
1994 |
Heart valve disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure.
|
23633437 |
2013 |
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure.
|
23633437 |
2013 |
Heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients homozygous for the p.R152W mutation present a cardiac variant of MPS VI characterized by progressive cardiac valve disease leading to serious cardiac complications including abrupt death due to cardiac failure.
|
23633437 |
2013 |