Open issues in Mucopolysaccharidosis type I-Hurler (Q33804960)

29 July 2017

7 references

12 March 2019

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25 April 2019

17 June 2019

Open issues in Mucopolysaccharidosis type I-Hurler (English)

1 reference

29 July 2017

mucopolysaccharidosis I

7 references

12 March 2019

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

mucopolysaccharidosis I

1 reference

5

Franco Locatelli

1 reference

29 July 2017

Rossella Parini

1

1 reference

29 July 2017

Federica Deodato

2

1 reference

29 July 2017

Maja Di Rocco

3

1 reference

29 July 2017

Edoardo Lanino

4

1 reference

29 July 2017

Chiara Messina

6

1 reference

29 July 2017

Attilio Rovelli

7

1 reference

29 July 2017

Maurizio Scarpa

8

1 reference

29 July 2017

15 June 2017

8 references

Orphanet Journal of Rare Diseases

29 July 2017

12 March 2019

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

8 references

29 July 2017

12 March 2019

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

17 June 2019

12

1 reference

29 July 2017

112

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29 July 2017

1

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Creative Commons Attribution 4.0 International

29 July 2017

7 references

12 March 2019

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

on focus list of Wikimedia project

17 June 2019

copyright status

copyrighted

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ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-017-0662-9

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cites work

Preclinical testing of the safety and tolerability of LV-mediated above normal alpha-L-iduronidase expression in murine and human hematopoietic cells using toxicology and biodistribution GLP studies

1 reference

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Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives.

4 July 2018

1 reference

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Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Transplantation in inborn errors of metabolism: current considerations and future perspectives

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Anaesthesia and airway management in mucopolysaccharidosis.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Fate mapping analysis reveals that adult microglia derive from primitive macrophages

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Mucopolysaccharidosis I: management and treatment guidelines

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

The clinical outcome of Hurler syndrome after stem cell transplantation.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Gene therapy for mucopolysaccharidosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

4 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Early treatment is associated with improved cognition in Hurler syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

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/10.1186%2FS13023-017-0662-9

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-017-0662-9

Bone marrow stem cells have the ability to populate the entire central nervous system into fully differentiated parenchymal microglia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5472858

Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Successful treatment of severe heart failure in an infant with Hurler syndrome

1 reference

12 December 2020

Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients

1 reference

12 December 2020

Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation

1 reference

12 December 2020

10.1186/S13023-017-0662-9

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DOI

1 reference

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29 July 2017

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1 reference

29 July 2017

1 reference