Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study (Q39436172)

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English	Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study	scientific article

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scholarly article

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study (English)

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

author name string

Chih-Kuang Chuang

1

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Hsiang-Yu Lin

2

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Tuan-Jen Wang

3

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Sung-Fa Huang

4

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Shuan-Pei Lin

5

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

publication date

13 July 2017

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

7

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

e014410

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

7

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Prevalence rates of mucopolysaccharidoses in Poland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Newborn screening and diagnosis of mucopolysaccharidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Diagnosing mucopolysaccharidosis IVA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Incidence of mucopolysaccharidoses in Tunisia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

CNS-directed gene therapy for lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Immunochemistry of lysosomal storage disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Stop-codon read-through for patients affected by a lysosomal storage disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Prediction of neuropathology in mucopolysaccharidosis I patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Structure of a human lysosomal sulfatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

17 June 2018

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5734244

21 August 2018

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cumulative incidence rates of the mucopolysaccharidoses in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, biochemical and molecular findings in a two-generation Morquio A family

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

1 reference

https://pubmed.ncbi.nlm.nih.gov/28710204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BMJOPEN-2016-014410

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

1 reference

Europe PubMed Central

8 January 2018

http://europepmc.org/abstract/PMC/5734244

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