(Q46263908)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

main subject

Italy

0 references

primary hyperoxaluria

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Daniela Giachino

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

A Robbiano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

R Sebastiano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

E Dondi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

R Fenoglio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

P Stratta

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M R Caruso

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M Petrarulo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M Marangella

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M De Marchi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

5 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

309-312

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel

25 December 2019

cites work

1 reference

12 December 2020

Tissue-specific expression and regulation of sexually dimorphic genes in mice

1 reference

12 December 2020

Effect of sex hormones on oxalate-synthesizing enzymes in male and female rat livers.

1 reference

12 December 2020

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

1 reference

12 December 2020

A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity

1 reference

12 December 2020

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

1 reference

12 December 2020

Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

1 reference

12 December 2020

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

12 December 2020

Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer

1 reference

12 December 2020

Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update

1 reference

12 December 2020

Twenty-four-hour urine chemistries and the risk of kidney stones among women and men.

1 reference

12 December 2020

10.1007/S00240-008-0162-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18985333%20AND%20SRC:MED&resulttype=core&format=json

release_mpyxtoebc5h5hnpp2nrptdgvu4

25 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mpyxtoebc5h5hnpp2nrptdgvu4

24 November 2022

mapped directly with Wikidata item

1 reference