Newborn screening and diagnosis of mucopolysaccharidoses (Q27025080)

Molecular Genetics and Metabolism

published in

1 reference

volume

110

1 reference

issue

1-2

1 reference

page(s)

42-53

1 reference

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

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

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Diagnosing mucopolysaccharidosis IVA

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

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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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Newborn screening for lysosomal storage disorders

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Expanded newborn screening: implications for genomic medicine

28 September 2017

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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

28 September 2017

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

28 September 2017

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Immunochemistry of lysosomal storage disorders.

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

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28 September 2017

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Heparin and heparan sulfate biosynthesis

28 September 2017

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Incidence of the mucopolysaccharidoses in Northern Ireland

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28 September 2017

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28 September 2017

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

28 September 2017

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

31 May 2018

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

31 May 2018

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A reliable spot test for mucopolysaccharidoses.

31 May 2018

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31 May 2018

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31 May 2018

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31 May 2018

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7 January 2021

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

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

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

7 January 2021

1 reference

12 December 2020

Bone marrow transplantation for genetic and metabolic disorders

1 reference

12 December 2020

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

12 December 2020

1 reference

12 December 2020

10.1016/J.YMGME.2013.06.007

Identifiers

DOI

0 references

Fatcat ID

release_n3tohigeivbafajr2h5vffnx44

0 references

1 reference

PubMed publication ID

23860310

1 reference