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Infantile nephropathic cystinosis
scientific article published on 12 December 2007
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
title
Infantile nephropathic cystinosis
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
main subject
Abderhalden–Kaufmann–Lignac syndrome
1 reference
based on heuristic
inferred from title
author
Michael B Stokes
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
author name string
Jernigan S
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
D'Agati VD
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
language of work or name
English
0 references
publication date
12 December 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
published in
Kidney International
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
volume
73
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
page(s)
782-786
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
cites work
Cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Fanconi syndrome of cystinosis: insights into the pathophysiology
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The various renal manifestations of the nephropathic form of cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multinucleated podocytes in a child with nephrotic syndrome and Fanconi's syndrome: A unique clue to the diagnosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new mutation in two siblings with cystinosis presenting with Bartter syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CTNS mutations in an American-based population of cystinosis patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early development of the renal lesions in infantile cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitosis and the presence of binucleate cells among glomerular podocytes in diseased human kidneys
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Parietal podocytes in normal human glomeruli
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal transplantation for childhood cystinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.KI.5002730
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.KI.5002730
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Dimensions Publication ID
1052683592
0 references
PubMed publication ID
18075494
1 reference
stated in
Europe PubMed Central
PubMed publication ID
18075494
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18075494%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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