(Q39655192)

English

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies

scientific article published on January 19, 1979

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scholarly article

1 reference

Europe PubMed Central

13 September 2017

A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies (English)

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

1 reference

based on heuristic

inferred from title

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

author name string

A. J. Reuser

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

G. Andria

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

E. de Wit-Verbeek

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

A. Hoogeveen

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

E. del Giudice

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A107114

25 April 2022

D. Halley

6

1 reference

Europe PubMed Central

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25 April 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=107114

25 April 2022

publication date

1 January 1979

1 reference

Europe PubMed Central

13 September 2017

19 January 1979

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=107114

25 April 2022

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00278897.pdf

Portable Document Format

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

http://link.springer.com/article/10.1007/BF00278897/fulltext.html

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

http://link.springer.com/content/pdf/10.1007/BF00278897

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

1 reference

Europe PubMed Central

13 September 2017

46

1 reference

Europe PubMed Central

13 September 2017

1

1 reference

Europe PubMed Central

13 September 2017

11-19

1 reference

Europe PubMed Central

13 September 2017

https://scigraph.springernature.com/pub.10.1007/bf00278897

0 references

Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver

1 reference

https://api.crossref.org/works/10.1007%2FBF00278897

21 January 2018

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

1 reference

https://api.crossref.org/works/10.1007%2FBF00278897

21 January 2018

Nature of the mutation in adult beta-galactosidase deficient patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional localization of aβ-galactosidase locus on human chromosome 22

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three-GM1-gangliosidonses and a variant of .BETA.-galactosidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential effect of chloride ions on β-galactosidase isoenzymes: A method for separate assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ganglioside storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of GM1 beta-galactosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in GM1-gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Beta-galactosidase deficiency in young adults.

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme.

1 reference

https://pubmed.ncbi.nlm.nih.gov/107114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Journal of Experimental Medicine

15

117

197

author name string

T. Orii

publication date

1975

1 reference

10.1007/BF00278897

https://api.crossref.org/works/10.1007/BF00278897

25 November 2022

Identifiers

10.1007/BF00278897

1 reference

Europe PubMed Central

13 September 2017

1 reference

Europe PubMed Central

13 September 2017

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