Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. (Q35214546)

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2 February 2020

title

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS (English)

1 reference

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2 February 2020

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3

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author name string

Jeroen van den Bosch

1

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2 February 2020

Linda F Oemardien

2

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2 February 2020

Monique Piraud

4

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2 February 2020

Jan G M Huijmans

5

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2 February 2020

Frans W Verheijen

6

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2 February 2020

George J G Ruijter

7

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publication date

27 May 2011

1 reference

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Journal of Inherited Metabolic Disease

2 February 2020

published in

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volume

34

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issue

5

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page(s)

1069-1073

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describes a project that uses

2 February 2020

liquid chromatography–mass spectrometry

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liquid chromatography-tandem mass spectrometry

inferred from title

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-011-9351-3

inferred from title

exact match

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cites work

Prenatal diagnosis of free sialic acid storage disorders (SASD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

The inborn errors of sialic acid metabolism and their laboratory investigation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Disorders of free sialic acid

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Hydrops fetalis: lysosomal storage disorders in extremis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3173643

Sialic acid metabolism in sialuria fibroblasts

26 September 2018

1 reference

12 December 2020

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection

1 reference

12 December 2020

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

1 reference

12 December 2020

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

1 reference

12 December 2020

Quantification of free and total sialic acid excretion by LC-MS/MS

1 reference

12 December 2020

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

1 reference

12 December 2020

Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease

1 reference

12 December 2020

10.1007/S10545-011-9351-3

Identifiers

DOI

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1 reference

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PubMed publication ID

21617927

1 reference