Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. (Q55412955)

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English	Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.	scientific article

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26 January 2020

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein (English)

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26 January 2020

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mucopolysaccharidosis I

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Hana Vlášková

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26 January 2020

Helena Poupětová

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26 January 2020

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26 January 2020

Martin Hrebicek

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26 January 2020

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26 January 2020

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26 January 2020

Lenka Dvořáková

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26 January 2020

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Alzbeta Vazna

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26 January 2020

Clare Beesley

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26 January 2020

Larisa Stolnaja

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26 January 2020

Helena Myskova

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26 January 2020

Michaela Bouckova

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26 January 2020

Anna Hlavata

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26 January 2020

Bryan Winchester

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26 January 2020

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1 May 2009

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26 January 2020

American Journal of Medical Genetics

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26 January 2020

149A

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26 January 2020

5

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26 January 2020

965-974

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26 January 2020

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

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27 July 2018

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

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27 July 2018

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27 July 2018

The Jalview Java alignment editor

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27 July 2018

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

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27 July 2018

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

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The frequency of lysosomal storage diseases in The Netherlands.

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27 July 2018

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

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27 July 2018

Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group

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27 July 2018

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

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27 July 2018

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

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27 July 2018

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes

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27 July 2018

Modification of enzymatically amplified DNA for the detection of point mutations.

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27 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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27 July 2018

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

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27 July 2018

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

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27 July 2018

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

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27 July 2018

Laronidase for treating mucopolysaccharidosis type I.

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12 August 2018

Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy

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12 August 2018

[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families]

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12 August 2018

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

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12 August 2018

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

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

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12 August 2018

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

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12 August 2018

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

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Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population.

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

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12 August 2018

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.

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

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Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi

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

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The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

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

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

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Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

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10.1002/AJMG.A.32812

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26 January 2020

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26 January 2020

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26 January 2020

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