(Q34422346)

2 August 2017

title

Newborn screening for hunter disease: a small-scale feasibility study (English)

1 reference

2 August 2017

G J G Ruijter

1

1 reference

2 August 2017

D A Goudriaan

2

1 reference

2 August 2017

A M Boer

3

1 reference

2 August 2017

J Van den Bosch

4

1 reference

2 August 2017

A T Van der Ploeg

5

1 reference

2 August 2017

L H Elvers

6

1 reference

2 August 2017

S S Weinreich

7

1 reference

2 August 2017

A J Reuser

8

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2 August 2017

publication date

23 November 2013

1 reference

Journal of Inherited Metabolic Disorders Reports

2 August 2017

published in

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2 August 2017

volume

14

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2 August 2017

page(s)

23-27

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

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Natural progression of neurological disease in mucopolysaccharidosis type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Newborn screening of lysosomal storage disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Long-term follow-up following bone marrow transplantation for Hunter disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4213338

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

27 October 2018

1 reference

12 December 2020

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

1 reference

12 December 2020

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders

1 reference

12 December 2020

Newborn bloodspot screening for lysosomal storage disorders

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2013_279

1 reference

2 August 2017

1 reference

2 August 2017

1 reference