(Q69939312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

Ontogeny modifies manifestations of cystinuria genes: implications for counseling (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

4

P Goodyer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

author name string

C R Scriver

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

C L Clow

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

T M Reade

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

C Auray-Blais

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

R Giguère

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

B Lemieux

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

language of work or name

English

0 references

publication date

1 March 1985

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

7 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

page(s)

411-416

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

Phenotypes and genotypes in cystinuria

7 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Cystinuria: Genetic Heterogeneity and Allelism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Genetics and Medicine: An Evolving Relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Cystinuria: increased prevalence in patients with mental disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Cystinuria: biochemical evidence for three genetically distinct diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

The excretion of amino acids by cystinuric patients and their relatives

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Cystinuria: reduced lysine permeability at the brush border of intestinal membrane cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

A new French-Canadian family affected by hyperargininaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Urine screening for aminoacidopathies: Is it beneficial?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

Childhood cystinuria in New South Wales. Results in children who were followed up after being detected by urinary screening in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980666-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(85)80666-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3919167%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference