A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan (Q37361498)

19 August 2017

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan (English)

1 reference

19 August 2017

mucopolysaccharidosis I

1 reference

Shuan-Pei Lin

1

1 reference

19 August 2017

Hsiang-Yu Lin

2

1 reference

19 August 2017

Tuen-Jen Wang

3

1 reference

19 August 2017

Chia-Ying Chang

4

1 reference

19 August 2017

Chia-Hui Lin

5

1 reference

19 August 2017

Sung-Fa Huang

6

1 reference

19 August 2017

Chia-Chen Tsai

7

1 reference

19 August 2017

Hsuan-Liang Liu

8

1 reference

19 August 2017

Joan Keutzer

9

1 reference

19 August 2017

Chih-Kuang Chuang

10

1 reference

19 August 2017

22 September 2013

1 reference

Orphanet Journal of Rare Diseases

19 August 2017

1 reference

19 August 2017

8

1 reference

19 August 2017

147

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Mucopolysaccharidosis I: management and treatment guidelines

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Immunochemistry of lysosomal storage disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

The frequency of lysosomal storage diseases in The Netherlands.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Prevalence of lysosomal storage disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Incidence of the mucopolysaccharidoses in Northern Ireland

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

Enzyme-replacement therapy in mucopolysaccharidosis I.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3849552

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

2 September 2018

1 reference

12 December 2020

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

1 reference

12 December 2020

MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes

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

Relative Frequency of the Hurler and Hunter Syndromes

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

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

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

Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report

1 reference

12 December 2020

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I

1 reference

12 December 2020

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-147

1 reference

Dimensions Publication ID

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

24053568

1 reference