Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry (Q35000585)

5 August 2017

title

Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry (English)

1 reference

5 August 2017

Shunji Tomatsu

1

1 reference

5 August 2017

Francyne Kubaski

2

1 reference

5 August 2017

Kazuki Sawamoto

3

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5 August 2017

Robert W Mason

4

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5 August 2017

Eriko Yasuda

5

1 reference

5 August 2017

Tsutomu Shimada

6

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5 August 2017

Adriana M Montaño

7

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5 August 2017

Seiji Yamaguchi

8

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5 August 2017

Yasuyuki Suzuki

9

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5 August 2017

Tadao Orii

10

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5 August 2017

publication date

1 January 2014

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Nihon Masu Sukuriningu Gakkai shi = Journal of Japanese Society for Mass-Screening

5 August 2017

published in

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5 August 2017

volume

24

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5 August 2017

page(s)

19-37

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Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.

5 August 2017

cites work

1 reference

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Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I.

8 July 2018

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Establishment of glycosaminoglycan assays for mucopolysaccharidoses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Newborn screening and diagnosis of mucopolysaccharidoses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

8 July 2018

1 reference

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Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Matrix proteoglycans: from molecular design to cellular function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

The structure of the keratan sulphate chains attached to fibromodulin from human articular cartilage

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Enzyme replacement therapy for murine mucopolysaccharidosis type VII

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Increased concentrations of proteoglycan components in the synovial fluids of patients with acute but not chronic joint disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

The antigenic determinants recognized by three monoclonal antibodies to keratan sulphate involve sulphated hepta- or larger oligosaccharides of the poly(N-acetyllactosamine) series

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

There are two major types of skeletal keratan sulphates

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Breakdown of proteoglycan and collagen induced in pig articular cartilage in organ culture

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

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 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Differential relative sulfation of Keratan sulfate glycosaminoglycan in the chick cornea during embryonic development

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Enzyme replacement therapy in a murine model of Morquio A syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303184

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry

26 October 2018

1 reference

12 December 2020

Fetal presentation of Morquio disease type A

1 reference

12 December 2020

Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis type VII: impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival

1 reference

12 December 2020

Studies on keratosulfates. Methylation, desulfation, and acid hydrolysis studies on old human rib cartilage keratosulfate

1 reference

12 December 2020

600 MHz 1H NMR study of a fucose-containing heptasaccharide derived from a keratanase digestion of bovine articular cartilage keratan sulphate

1 reference

12 December 2020

Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study

1 reference

12 December 2020

Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

1 reference

12 December 2020

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper

1 reference

12 December 2020

Decreased GlcNAc 6-O-sulfotransferase activity in the cornea with macular corneal dystrophy

1 reference

12 December 2020

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

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

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

1 reference

12 December 2020

Human aggrecan keratan sulfate undergoes structural changes during adolescent development

1 reference

12 December 2020

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry

1 reference

12 December 2020

Identifiers

PMC publication ID

4303184

1 reference

5 August 2017

1 reference