(Q72110072)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8051928%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany (English)

1 reference

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23 October 2019

1 reference

2

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23 October 2019

author name string

T Podskarbi

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8051928%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Y S Shin

series ordinal

3

1 reference

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23 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8051928%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

23 October 2019

published in

1 reference

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23 October 2019

volume

17

1 reference

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23 October 2019

issue

1

1 reference

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23 October 2019

page(s)

149-150

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00735422

23 October 2019

exact match

0 references

cites work

Genetic basis of galactosemia

1 reference

12 December 2020

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

1 reference

12 December 2020

The human galactose-1-phosphate uridyltransferase gene

1 reference

12 December 2020

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00735422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8051928%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference