(Q74826567)

English

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells

scientific article published on 01 June 1998

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Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686364%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686364%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

based on heuristic

inferred from title

author name string

Y S Shin

1

1 reference

Europe PubMed Central

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13 November 2019

H G Koch

2

1 reference

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13 November 2019

M Köhler

3

1 reference

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13 November 2019

G Hoffmann

4

1 reference

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13 November 2019

A Patsoura

5

1 reference

Europe PubMed Central

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13 November 2019

T Podskarbi

6

1 reference

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13 November 2019

publication date

1 June 1998

1 reference

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13 November 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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13 November 2019

21

1 reference

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13 November 2019

3

1 reference

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13 November 2019

232-235

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13 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005303818858

0 references

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686364

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686364

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis for Duarte and Los Angeles variant galactosemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686364

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686364

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005303818858

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9686364%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Dimensions Publication ID

0 references

1 reference

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13 November 2019

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