Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides (Q35203742)

7 August 2017

Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides (English)

1 reference

7 August 2017

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R. A. Gravel

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

30 November 2022

J. A. Lowden

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

30 November 2022

J. W. Callahan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

30 November 2022

L. S. Wolfe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

30 November 2022

N. M. Ng Yin Kin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

30 November 2022

language of work or name

English

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publication date

1 November 1979

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full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/117700/?tool=EBI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/117700/pdf/?tool=EBI

30 November 2022

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Portable Document Format

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

https://europepmc.org/articles/PMC1686036

30 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

https://europepmc.org/articles/PMC1686036?pdf=render

30 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A117700

American Journal of Human Genetics

30 November 2022

published in

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7 August 2017

31

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7 August 2017

6

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7 August 2017

669-679

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Protein measurement with the Folin phenol reagent

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids

13 July 2018

1 reference

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Plaque formation and isolation of pure lines with poliomyelitis viruses

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Automated assay of hexosaminidases in serum.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

The structures of oligosaccharides accumulating in the liver of G-M1-gangliosidosis, type I.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

An improved method for the detection of beta-galactosidase activity, and its application to G MI-gangliosidosis and mucopolysaccharidosis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Isolated acid neuraminidase deficiency: A distinct lysosomal storage 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=1686036

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Purification of GM 1-ganglioside and ceramide lactoside β-galactosidase from rabbit brain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Sialidosis: a review of human neuraminidase deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Tay‐Sachs' disease with visceral involvement and its relationship to Niemann‐Pick's 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=1686036

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

Generalized gangliosidosis: beta-galactosidase deficiency.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686036

The assay of arylsulphatases A and B in human urine

26 September 2018

1 reference

12 December 2020

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

1 reference

12 December 2020

Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components

1 reference

12 December 2020

Two types of ribosome in mouse-hamster hybrid cells

1 reference

12 December 2020

Sialidosis (mucolipidosis I)

1 reference

12 December 2020

Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis

1 reference

12 December 2020

The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

1 reference

12 December 2020

Characterization of oligosaccharides and glycopeptides excreted in the urine of GMl-gangliosidosis patients

1 reference

12 December 2020

Identifiers

PMCID

1686036

1 reference

7 August 2017

1 reference