Enzyme replacement in a canine model of Hurler syndrome (Q36013555)

11 August 2017

Enzyme replacement in a canine model of Hurler syndrome (English)

1 reference

11 August 2017

R M Shull

1

1 reference

11 August 2017

E D Kakkis

2

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11 August 2017

M F McEntee

3

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11 August 2017

S A Kania

4

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11 August 2017

A J Jonas

5

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11 August 2017

E F Neufeld

6

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11 August 2017

language of work or name

English

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publication date

1 December 1994

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Proceedings of the National Academy of Sciences of the United States of America

11 August 2017

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11 August 2017

91

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11 August 2017

12937-12941

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11 August 2017

26

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INBORN LYSOSOMAL DISEASES.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Enzyme replacement therapy for murine mucopolysaccharidosis type VII

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

A canine model of human alpha-L-iduronidase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Morphologic and biochemical studies of canine mucopolysaccharidosis I

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Carbohydrate-Specific Receptors of the Liver

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Lysosomal enzymes and their receptors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Mannose 6-phosphate receptors and lysosomal enzyme targeting

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

Long-term outcome of Hurler syndrome following bone marrow transplantation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

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.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=45555

The Hurler corrective factor. Purification and some properties

23 September 2018

1 reference

12 December 2020

Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts

1 reference

12 December 2020

Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase

1 reference

12 December 2020

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene

1 reference

12 December 2020

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1 reference

12 December 2020

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.91.26.12937

1 reference

release_ev4xexb25bgqho2qw7ga4qe55e

11 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ev4xexb25bgqho2qw7ga4qe55e

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

1 reference