An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life (Q42122146)

16 October 2017

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

1 reference

16 October 2017

mucopolysaccharidosis I

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7

Ronald J A Wanders

1 reference

16 October 2017

Sandra D K Kingma

1

1 reference

16 October 2017

Eveline J Langereis

2

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16 October 2017

Clasine M de Klerk

3

1 reference

16 October 2017

Lida Zoetekouw

4

1 reference

16 October 2017

Tom Wagemans

5

1 reference

16 October 2017

Lodewijk Ĳlst

6

1 reference

16 October 2017

Frits A Wijburg

8

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16 October 2017

Naomi van Vlies

9

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16 October 2017

language of work or name

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9 July 2013

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Orphanet Journal of Rare Diseases

16 October 2017

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16 October 2017

8

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16 October 2017

99

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-99

16 October 2017

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cites work

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

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Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

29 May 2018

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Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms

29 May 2018

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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

29 May 2018

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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

29 May 2018

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Orthopaedic aspects of mucopolysaccharidoses

29 May 2018

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

29 May 2018

1 reference

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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

29 May 2018

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Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

29 May 2018

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Musculoskeletal manifestations of lysosomal storage disorders.

29 May 2018

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Mucopolysaccharidosis I: management and treatment guidelines

29 May 2018

1 reference

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

29 May 2018

1 reference

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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).

29 May 2018

1 reference

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

29 May 2018

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Prediction of neuropathology in mucopolysaccharidosis I patients.

29 May 2018

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

29 May 2018

1 reference

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Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

29 May 2018

1 reference

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Protein measurement with the Folin phenol reagent

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

29 May 2018

1 reference

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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

29 May 2018

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

29 May 2018

1 reference

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29 May 2018

1 reference

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

The mucopolysaccharidoses: a clinical review and guide to management

29 May 2018

1 reference

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

The clinical spectrum of alpha-L-iduronidase deficiency

29 May 2018

1 reference

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Neuropathological and clinical correlations in Hurler disease.

29 May 2018

1 reference

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A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Enzyme-replacement therapy in mucopolysaccharidosis I.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Early presentation in the mucopolysaccharide disorders.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

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.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710214

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

1 December 2018

1 reference

12 December 2020

Hurler syndrome with cardiomyopathy in infancy

1 reference

12 December 2020

The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis

1 reference

12 December 2020

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

1 reference

12 December 2020

Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes

1 reference

12 December 2020

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-99

1 reference

Dimensions Publication ID

16 October 2017

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1 reference

16 October 2017

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