(Q38963628)

8 September 2017

Early disease progression of Hurler syndrome (English)

1 reference

8 September 2017

Bridget T Kiely

1

1 reference

8 September 2017

Jennifer L Kohler

2

1 reference

8 September 2017

Hannah Y Coletti

3

1 reference

8 September 2017

Michele D Poe

4

1 reference

8 September 2017

Maria L Escolar

5

1 reference

8 September 2017

14 February 2017

1 reference

Orphanet Journal of Rare Diseases

8 September 2017

1 reference

8 September 2017

12

1 reference

8 September 2017

1

1 reference

8 September 2017

32

1 reference

https://scigraph.springernature.com/pub.10.1186/s13023-017-0583-7

8 September 2017

0 references

cites work

Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

The natural history of MPS I: global perspectives from the MPS I Registry

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Mucopolysaccharidosis I: management and treatment guidelines

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

WHO Motor Development Study: windows of achievement for six gross motor development milestones

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Pediatric feeding disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Early treatment is associated with improved cognition in Hurler syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Gross motor development of children with hurler syndrome after umbilical cord blood transplantation.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Epidemiology of otitis media onset by six months of age.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

Early presentation in the mucopolysaccharide disorders.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5307824

The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28193245

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28193245

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13023-017-0583-7

1 reference

Dimensions Publication ID

8 September 2017

0 references

1 reference

8 September 2017

1 reference