Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (Q34373560)

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13 March 2020

title

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

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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

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author

Amelia Morrone

1

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13 March 2020

Lacerda L

13

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13 March 2020

Sandra Leistner-Segal

15

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13 March 2020

Isaura Ribeiro

19

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13 March 2020

author name string

K L Tylee

2

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13 March 2020

M Al-Sayed

3

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13 March 2020

A C Brusius-Facchin

4

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13 March 2020

A Caciotti

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13 March 2020

H J Church

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13 March 2020

M J Coll

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13 March 2020

K Davidson

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13 March 2020

M J Fietz

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L Gort

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13 March 2020

M Hegde

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13 March 2020

F Kubaski

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13 March 2020

F Laranjeira

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13 March 2020

S Mooney

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13 March 2020

S Pajares

17

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13 March 2020

L Pollard

18

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13 March 2020

R Y Wang

20

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13 March 2020

N Miller

21

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publication date

20 March 2014

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Molecular Genetics and Metabolism

13 March 2020

published in

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volume

112

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13 March 2020

page(s)

160-170

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13 March 2020

issue

2

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

13 March 2020

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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