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

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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

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

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

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Germline and somatic mosaicism in a female carrier of Hunter disease

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

21 January 2018

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

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

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

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NAGLU Mutations Underlying Sanfilippo Syndrome Type B

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

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

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12 December 2020

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

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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).

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12 December 2020

10.1007/S10545-012-9533-7

Identifiers

DOI

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13 September 2017

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