Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature (Q35179027)

7 August 2017

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title

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

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7 August 2017

mucopolysaccharidosis I

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Nancy J Terlato

1

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PubMed ID

12865757

7 August 2017

Gerald F Cox

series ordinal

2

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PubMed ID

12865757

7 August 2017

language of work or name

English

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publication date

1 July 2003

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7 August 2017

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7 August 2017

5

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7 August 2017

286-294

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7 August 2017

4

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

7 August 2017

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

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/10.1097%2F01.GIM.0000078027.83236.49

Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

Enzyme-replacement therapy in mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000078027.83236.49

10.1097/01.GIM.0000078027.83236.49

21 January 2018

Identifiers

DOI

1 reference

7 August 2017

1 reference

PubMed ID

12865757