(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

author

Amelia Morrone

1

1 reference

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13 March 2020

Lacerda L

13

1 reference

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13 March 2020

Sandra Leistner-Segal

15

1 reference

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13 March 2020

Isaura Ribeiro

19

1 reference

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13 March 2020

author name string

K L Tylee

2

1 reference

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13 March 2020

M Al-Sayed

3

1 reference

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13 March 2020

A C Brusius-Facchin

4

1 reference

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13 March 2020

A Caciotti

5

1 reference

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13 March 2020

H J Church

6

1 reference

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13 March 2020

M J Coll

7

1 reference

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13 March 2020

K Davidson

8

1 reference

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13 March 2020

M J Fietz

9

1 reference

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13 March 2020

L Gort

10

1 reference

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13 March 2020

M Hegde

11

1 reference

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13 March 2020

F Kubaski

12

1 reference

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13 March 2020

F Laranjeira

14

1 reference

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13 March 2020

S Mooney

16

1 reference

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13 March 2020

S Pajares

17

1 reference

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13 March 2020

L Pollard

18

1 reference

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13 March 2020

R Y Wang

20

1 reference

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13 March 2020

N Miller

21

1 reference

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13 March 2020

publication date

20 March 2014

1 reference

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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

2

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

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

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6 July 2018

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6 July 2018

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6 July 2018

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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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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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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

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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27 October 2018

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

27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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Mutational analysis of 105 mucopolysaccharidosis type VI patients

27 October 2018

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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

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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

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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

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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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4203673

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

1 reference

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