(Q34373560)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]

13 March 2020

corrigendum / erratum

0 references

1 reference

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13 March 2020

1 reference

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13 March 2020

Sandra Leistner-Segal

1 reference

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13 March 2020

1 reference

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13 March 2020

K L Tylee

1 reference

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13 March 2020

M Al-Sayed

1 reference

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13 March 2020

A C Brusius-Facchin

1 reference

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13 March 2020

A Caciotti

1 reference

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13 March 2020

H J Church

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

M J Coll

1 reference

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13 March 2020

K Davidson

1 reference

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13 March 2020

M J Fietz

1 reference

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13 March 2020

L Gort

1 reference

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13 March 2020

M Hegde

1 reference

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13 March 2020

F Kubaski

1 reference

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13 March 2020

F Laranjeira

1 reference

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13 March 2020

S Mooney

1 reference

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13 March 2020

S Pajares

1 reference

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13 March 2020

L Pollard

1 reference

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13 March 2020

R Y Wang

1 reference

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13 March 2020

N Miller

1 reference

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13 March 2020

publication date

20 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

13 March 2020

published in

1 reference

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13 March 2020

volume

112

1 reference

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13 March 2020

issue

1 reference

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13 March 2020

page(s)

160-170

1 reference

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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

13 March 2020

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Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

6 July 2018

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Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

6 July 2018

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Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

6 July 2018

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6 July 2018

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The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

6 July 2018

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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

6 July 2018

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6 July 2018

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6 July 2018

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Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine

6 July 2018

1 reference

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Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

6 July 2018

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6 July 2018

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A method and server for predicting damaging missense mutations

6 July 2018

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Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

6 July 2018

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Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

6 July 2018

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Preimplantation genetic diagnosis of Morquio disease.

6 July 2018

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Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

6 July 2018

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Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry

6 July 2018

1 reference

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Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients

6 July 2018

1 reference

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Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

6 July 2018

1 reference

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Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

6 July 2018

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Prevalence of lysosomal storage diseases in Portugal

6 July 2018

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The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

6 July 2018

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Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

6 July 2018

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Accounting for human polymorphisms predicted to affect protein function

6 July 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 July 2018

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The frequency of lysosomal storage diseases in The Netherlands.

6 July 2018

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Prevalence of lysosomal storage disorders

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

6 July 2018

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

6 July 2018

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

6 July 2018

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Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

6 July 2018

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6 July 2018

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

6 July 2018

1 reference

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Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

6 July 2018

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Diagnosis of Morquio's disease: a simple chromatographic method for the identification of keratosulfate in urine.

6 July 2018

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Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates

6 July 2018

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Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix

6 July 2018

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Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion

6 July 2018

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Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay

6 July 2018

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Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

6 July 2018

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Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

6 July 2018

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[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].

6 July 2018

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The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

27 October 2018

1 reference

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

27 October 2018

1 reference

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Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

27 October 2018

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A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.

27 October 2018

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Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

27 October 2018

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Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.

27 October 2018

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GALNS gene expression profiling in Morquio A patients' fibroblasts.

27 October 2018

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Growth charts for patients affected with Morquio A disease.

27 October 2018

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

27 October 2018

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Mutational analysis of 105 mucopolysaccharidosis type VI patients

27 October 2018

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International Morquio A Registry: clinical manifestation and natural course of Morquio A disease

27 October 2018

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

27 October 2018

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Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

27 October 2018

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Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

27 October 2018

1 reference

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Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

27 October 2018

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Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

27 October 2018

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Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

27 October 2018

1 reference

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

27 October 2018

1 reference

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Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

27 October 2018

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A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

27 October 2018

1 reference

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

27 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Detection of Morquio A syndrome using radiolabelled substrates derived from keratan sulphate for the estimation of galactose 6-sulphate sulphatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Incidence of the mucopolysaccharidoses in Western Australia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Deficiency of lysosomal hydrolases in apparently healthy individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.03.004

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

7 January 2021

1 reference

12 December 2020

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

1 reference

12 December 2020

Molecular genetic assay of mucopolysaccharidosis IVA in South China

1 reference

12 December 2020

Clinical, biochemical and molecular findings in a two-generation Morquio A family

1 reference

12 December 2020

10.1016/J.YMGME.2014.03.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

PubMed publication ID

24726177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24726177%20AND%20SRC:MED&resulttype=core&format=json