Condition: Mucopolysaccharidosis, MPS-IV-A


rs1028668536 in GALNS gene and Mucopolysaccharidosis, MPS-IV-A PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 15235041 2004 Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

PMID 23876334 2014 Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

PMID 25137622 2014 Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

PMID 10814710 2000 Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

PMID 9521421 1998 Previous studies of patients from a British-Irish population showed that the I113F mutation is the most common single mutation among MPS IVA patients and produces a severe clinical phenotype.

PMID 25433535 2014 Overcoming the barriers to diagnosis of Morquio A syndrome.

PMID 9385378 1997 A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.

PMID 17876718 2007 Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

PMID 16837223 2006 Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

PMID 22940367 2012 The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.

PMID 25287660 2014 Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.

PMID 23227063 2012 Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

PMID 7987329 1994 A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

PMID 29275451 2018 Voice alterations in patients with Morquio A syndrome.

PMID 12442278 2002 Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.

PMID 25364648 2014 An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

PMID 23401410 2013 Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

PMID 24411403 2014 Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.

rs118204437 in GALNS;LOC107987238 gene and Mucopolysaccharidosis, MPS-IV-A PMID 15309681 2004 Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

PMID 23227063 2012 Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 26147980 2015 Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 25252036 2014 GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

rs866745731 in GALNS;TRAPPC2L;LOC107983950 gene and Mucopolysaccharidosis, MPS-IV-A PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

rs755832705 in LOC107983950;TRAPPC2L;GALNS gene and Mucopolysaccharidosis, MPS-IV-A PMID 25252036 2014 GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

rs200763834 in LOC107987238;GALNS gene and Mucopolysaccharidosis, MPS-IV-A PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.