(Q70819184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

galactose epimerase deficiency

14 October 2019

main subject

1 reference

L R Garibaldi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

S Canini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

A Superti-Furga

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

G Lamedica

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M Filocamo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

N Marchese

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

C Borrone

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 December 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

927-930

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

14 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

A fluorescent spot test for the detection of galactokinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Gas-liquid chromatographic determination of galactitol in amniotic fluid for possible use in prenatal diagnosis of galactosaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Galactose Metabolism and Cell "Sociology"

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

Newborn screening for galactosemia and other galactose metabolic defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2883%2980719-7

10.1016/S0022-3476(83)80719-7

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6549612%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference