Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero (Q35447243)

8 August 2017

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

1 reference

8 August 2017

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Froissart R

1

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8 August 2017

Cheillan D

2

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8 August 2017

Bouvier R

3

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8 August 2017

Tourret S

4

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8 August 2017

Bonnet V

5

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8 August 2017

Piraud M

6

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8 August 2017

Maire I

7

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8 August 2017

language of work or name

English

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publication date

1 April 2005

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Journal of Medical Genetics

8 August 2017

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8 August 2017

42

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8 August 2017

11

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8 August 2017

829-836

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A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Clinical spectrum of infantile free sialic acid storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Infantile sialic acid storage disease: biochemical studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Infantile sialic acid storage disease associated with renal disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Hydrops revisited: literature review of 1,414 cases published in the 1980s

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Ultrasound assessment in a case of sialic acid storage disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735939

[Diagnosis of lysosomal storage diseases with fetal presentation]

26 September 2018

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

Infantile sialic acid storage disease: report of the first case in South America

1 reference

12 December 2020

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

1 reference

12 December 2020

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

1 reference

12 December 2020

Infantile sialic acid storage disease and protein-losing gastroenteropathy

1 reference

12 December 2020

Neonatal ascites due to lysosomal storage disease

1 reference

12 December 2020

Salla disease in one non-Finnish patient

1 reference

12 December 2020

Fetal presentation of Morquio disease type A

1 reference

12 December 2020

Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.029744

1 reference

release_5qaa55qoejf6xfgb74bbekinxm

8 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5qaa55qoejf6xfgb74bbekinxm

24 November 2022

mapped directly with Wikidata item

PMCID

1735939

1 reference

8 August 2017

1 reference