Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations (Q39552940)

13 September 2017

title

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations (English)

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13 September 2017

Laura M Pollard

1

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13 September 2017

Julie R Jones

series ordinal

2

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13 September 2017

Tim C Wood

series ordinal

3

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13 September 2017

publication date

14 September 2012

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Journal of Inherited Metabolic Disease

13 September 2017

published in

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13 September 2017

volume

36

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13 September 2017

issue

2

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13 September 2017

page(s)

179-187

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A method and server for predicting damaging missense mutations

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Germline and somatic mosaicism in a female carrier of Hunter disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Mucopolysaccharidosis type II: an update on mutation spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Mutational analysis of 105 mucopolysaccharidosis type VI patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

NAGLU mutations underlying Sanfilippo syndrome type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9533-7

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

21 January 2018

1 reference

12 December 2020

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1 reference

12 December 2020

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

1 reference

12 December 2020

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

1 reference

12 December 2020

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

1 reference

12 December 2020

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

1 reference

12 December 2020

The assay of arylsulphatases A and B in human urine

1 reference

12 December 2020

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

1 reference

12 December 2020

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

1 reference

12 December 2020

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis

1 reference

12 December 2020

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

1 reference

12 December 2020

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene

1 reference

12 December 2020

10.1007/S10545-012-9533-7

Identifiers

DOI

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13 September 2017

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