Newborn screening and diagnosis of mucopolysaccharidoses (Q27025080)

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Language	Label	Description	Also known as
English	Newborn screening and diagnosis of mucopolysaccharidoses	scientific article

Statements

scholarly article

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Newborn screening and diagnosis of mucopolysaccharidoses (English)

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author name string

Shunji Tomatsu

1

1 reference

Tadashi Fujii

2

1 reference

Masaru Fukushi

3

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Toshihiro Oguma

4

1 reference

Tsutomu Shimada

5

1 reference

Miho Maeda

6

1 reference

Kazuhiro Kida

7

1 reference

Yuniko Shibata

8

1 reference

Hideyuki Futatsumori

9

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Adriana M. Montaño

10

1 reference

Robert W. Mason

11

1 reference

Seiji Yamaguchi

12

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Yasuyuki Suzuki

13

1 reference

Tadao Orii

14

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language of work or name

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publication date

2013

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Molecular Genetics and Metabolism

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110

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1-2

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42-53

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Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

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21 March 2017

Keratan sulfate: structure, biosynthesis, and function

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21 March 2017

Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses

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21 March 2017

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

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Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates

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28 September 2017

Diagnosing mucopolysaccharidosis IVA

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28 September 2017

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

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28 September 2017

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

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28 September 2017

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses

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28 September 2017

A Tailored Approach to Family‐Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

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28 September 2017

New strategies for enzyme replacement therapy for lysosomal storage diseases

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

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28 September 2017

Enzyme replacement therapy for the management of the mucopolysaccharidoses.

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28 September 2017

Multidisciplinary management of Hunter syndrome.

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28 September 2017

Screening: why, when, and how.

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28 September 2017

Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway.

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28 September 2017

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

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28 September 2017

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

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28 September 2017

Newborn screening for lysosomal storage disorders

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28 September 2017

Expanded newborn screening: implications for genomic medicine

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28 September 2017

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

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28 September 2017

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

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28 September 2017

Immunochemistry of lysosomal storage disorders.

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28 September 2017

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

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28 September 2017

Cell and gene-based therapies for the lysosomal storage diseases

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28 September 2017

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

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28 September 2017

Gene therapy for lysosomal storage diseases: the lessons and promise of animal models

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28 September 2017

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

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28 September 2017

Heparin and heparan sulfate biosynthesis

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28 September 2017

Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe

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28 September 2017

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

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28 September 2017

The frequency of lysosomal storage diseases in The Netherlands.

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28 September 2017

Prevalence of lysosomal storage disorders

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28 September 2017

Incidence of the mucopolysaccharidoses in Northern Ireland

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28 September 2017

Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome

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28 September 2017

Enzyme replacement in a canine model of Hurler syndrome

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28 September 2017

The mucopolysaccharidoses: a clinical review and guide to management

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28 September 2017

High-performance liquid chromatographic identification of eight constitutional disaccharides from heparan sulfate isomers digested with heparitinases

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28 September 2017

The mucopolysaccharidoses

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28 September 2017

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

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31 May 2018

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

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31 May 2018

The quantitative spectrophotometric estimation of total sulfated glycosaminoglycan levels. Formation of soluble alcian blue complexes.

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31 May 2018

A reliable spot test for mucopolysaccharidoses.

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31 May 2018

The urinary acid mucopolysaccharides in normal male children.

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31 May 2018

Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses

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31 May 2018

Improved quantitation and discrimination of sulphated glycosaminoglycans by use of dimethylmethylene blue

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31 May 2018

Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix

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31 May 2018

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses

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31 May 2018

Analysis of unsaturated disaccharides from glycosaminoglycuronan by high-performance liquid chromatography

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31 May 2018

Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion

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31 May 2018

The spot test is not a reliable screening procedure for mucopolysaccharidoses

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31 May 2018

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.

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28 November 2018

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

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28 November 2018

Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI): A single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation

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28 November 2018

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

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28 November 2018

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

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28 November 2018

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

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28 November 2018

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

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28 November 2018

Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation

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28 November 2018

Functions of chondroitin sulfate/dermatan sulfate chains in brain development. Critical roles of E and iE disaccharide units recognized by a single chain antibody GD3G7.

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28 November 2018

Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.

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28 November 2018

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

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28 November 2018

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

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28 November 2018

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

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28 November 2018

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

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28 November 2018

Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.

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28 November 2018

Enzyme-replacement therapy in mucopolysaccharidosis I.

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28 November 2018

Binding and detection of glycosaminoglycans immobilized on membranes treated with cationic detergents

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28 November 2018

Glycosaminoglycans in neonatal urine

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28 November 2018

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

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28 November 2018

Quantitation of proteoglycans as glycosaminoglycans in biological fluids using an alcian blue dot blot analysis

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28 November 2018

Mass screening test for mucopolysaccharidoses using the 1,9-dimethylmethylene blue method: positive interference from paper diapers

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28 November 2018

Screening for mucopolysaccharide disorders with the Berry spot test

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28 November 2018

Cumulative incidence rates of the mucopolysaccharidoses in Germany

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7 January 2021

Incidence of the mucopolysaccharidoses in Western Australia

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Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

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7 January 2021

MINI REVIEW Keratan sulfate: structure, biosynthesis, and function

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Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

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Quantitation of chondroitin 4-sulfate and chondroitin 6-sulfate in pathologic joint fluid

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7 January 2021

Characterization and Determination of Human Urinary Keratan Sulfate

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7 January 2021

Microanalysis of glycosaminoglycan-derived oligosaccharides labeled with a fluorophore 2-aminobenzamide by high-performance liquid chromatography: application to disaccharide composition analysis and exosequencing of oligosaccharides

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7 January 2021

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

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7 January 2021

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

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7 January 2021

Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns

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7 January 2021

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

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7 January 2021

Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening

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7 January 2021

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

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7 January 2021

Variation in immunoreactive trypsinogen concentrations among michigan newborns and implications for cystic fibrosis newborn screening

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7 January 2021

Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS

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7 January 2021

Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses

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7 January 2021

Glycosaminoglycan excretion in random samples of urine

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7 January 2021

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

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7 January 2021

Chemical structure of urinary dermatan sulfate excreted by a patient with the Hunter syndrome

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7 January 2021

Fractionation and characterization of urinary heparan sulfate excreted by patients with Sanfilippo syndrome

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7 January 2021

A rapid and micro method for separation of acidic glycosaminoglycans by two-dimensional electrophoresis

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7 January 2021

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

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7 January 2021

Sequential thin layer chromatography of urinary acidic glycosaminglycans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

Analytical and preparative separation of acidic glycosaminoglycans by electrophoresis in barium acetate

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.06.007

7 January 2021

Content and sulfation pattern of keratan sulfate in hip osteoarthritis using high performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/23860310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplantation for genetic and metabolic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/23860310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences in the nonreducing ends of heparan sulfates excreted by patients with mucopolysaccharidoses revealed by bacterial heparitinases: a new tool for structural studies and differential diagnosis of Sanfilippo's and Hunter's syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23860310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age related changes in the concentration of serum keratan sulphate in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/23860310

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2013.06.007

0 references

release_n3tohigeivbafajr2h5vffnx44

0 references

PMC publication ID

1 reference

PubMed publication ID

1 reference

ResearchGate publication ID

0 references

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