Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults (Q63979931)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21900880%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults (English)

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Abderhalden–Kaufmann–Lignac syndrome

12 February 2020

main subject

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4

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12 February 2020

Aude Servais

12

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12 February 2020

10

Philippe Lesavre

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12 February 2020

author name string

Albane Brodin-Sartorius

1

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12 February 2020

Marie-Josèphe Tête

2

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12 February 2020

Patrick Niaudet

3

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12 February 2020

Geneviève Guest

5

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12 February 2020

Marina Charbit

7

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12 February 2020

Dominique Moyse

8

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12 February 2020

Christophe Legendre

9

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12 February 2020

Pierre Cochat

11

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12 February 2020

Chris Ottolenghi

6

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language of work or name

English

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publication date

7 September 2011

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12 February 2020

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12 February 2020

volume

81

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issue

2

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page(s)

179-189

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https://scigraph.springernature.com/pub.10.1038/ki.2011.277

12 February 2020

exact match

0 references

cites work

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

https://api.crossref.org/works/10.1038%2FKI.2011.277

1 reference

7 January 2021

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

CTNS mutations in patients with cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

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

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Lysosomal cystine transport in cystinosis variants and their parents

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Complications of nephropathic cystinosis after renal failure

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Pulmonary dysfunction in adults with nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Neurologic complications in long-standing nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Nodular regenerative hyperplasia and severe portal hypertension in cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Hematological manifestations of nephropathic cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Fertility status in male cystinosis patients treated with cysteamine.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Follow-up and treatment of adults with cystinosis in the Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Improved renal function in children with cystinosis treated with cysteamine

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Nephropathic cystinosis: late complications of a multisystemic disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Diabetes mellitus in patients with infantile cystinosis after renal transplantation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Late symptoms in infantile cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Evidence for Cerebral Involvement in Nephropathic Cystinosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

The Fanconi syndrome of cystinosis: insights into the pathophysiology

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

New equations to estimate GFR in children with CKD

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FKI.2011.277

7 January 2021

Identifiers

DOI

10.1038/KI.2011.277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21900880%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

12 February 2020

0 references

1 reference