(Q51839775)

13 April 2018

title

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

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13 April 2018

main subject

mucopolysaccharidosis I

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inferred from title

author

Sandra Leistner-Segal

4

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13 April 2018

Roberto Giugliani

11

Roberto Giugliani

1 reference

13 April 2018

Ursula Matte

1

Ursula Matte

1 reference

13 April 2018

Ida Vanessa D Schwartz

5

Ida Schwartz

1 reference

13 April 2018

Denise Y J Norato

7

Denise Y Norato

1 reference

13 April 2018

Luciane Soares de Lima

6

Luciane Lima

1 reference

13 April 2018

John Hopwood

12

John J Hopwood

1 reference

13 April 2018

author name string

Gouri Yogalingam

2

1 reference

13 April 2018

Doug Brooks

3

1 reference

13 April 2018

Jaime M Brum

8

1 reference

13 April 2018

Clare Beesley

9

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13 April 2018

Bryan Winchester

10

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13 April 2018

publication date

1 January 2003

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13 April 2018

Molecular Genetics and Metabolism

published in

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13 April 2018

volume

78

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13 April 2018

issue

1

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13 April 2018

page(s)

37-43

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13 April 2018

Human alpha-L-iduronidase: cDNA isolation and expression

cites work

1 reference

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7 January 2021

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900200-7

7 January 2021

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900200-7

7 January 2021

Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900200-7

7 January 2021

Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900200-7

7 January 2021

Glycosidase active site mutations in human alpha-L-iduronidase.

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7 January 2021

Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile

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7 January 2021

Mutations among Italian mucopolysaccharidosis type I patients

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7 January 2021

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

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7 January 2021

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

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7 January 2021

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

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7 January 2021

Unique frequency of known mutations in Brazilian MPS I patients

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7 January 2021

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

1 reference

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7 January 2021

Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene

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7 January 2021

Human alpha-L-iduronidase. 2. Catalytic properties.

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7 January 2021

A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes

1 reference

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7 January 2021

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

1 reference

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7 January 2021

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

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7 January 2021

Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis

1 reference

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7 January 2021

10.1016/S1096-7192(02)00200-7

Identifiers

DOI

1 reference

13 April 2018

1 reference

13 April 2018