Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients (Q39137145)

9 September 2017

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients (English)

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9 September 2017

mucopolysaccharidosis I

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Esmee Oussoren

1

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9 September 2017

Joke Keulemans

2

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9 September 2017

Otto P van Diggelen

3

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9 September 2017

Linda F Oemardien

4

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9 September 2017

Remco G Timmermans

5

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9 September 2017

Ans T van der Ploeg

6

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9 September 2017

George J G Ruijter

7

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9 September 2017

4 June 2013

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Molecular Genetics and Metabolism

9 September 2017

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9 September 2017

109

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9 September 2017

377-381

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9 September 2017

4

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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

9 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Structure and sequence of the human alpha-L-iduronidase gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Enzyme-replacement therapy in mucopolysaccharidosis I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Genetic modifiers of nutritional status in cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Single-gene disorders: what role could moonlighting enzymes play?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Identification and characterization of -3c-g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.016

10.1016/J.YMGME.2013.05.016

7 January 2021

Identifiers

DOI

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9 September 2017

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