(Q35581102)

9 August 2017

1 reference

title

Early oral cysteamine therapy for nephropathic cystinosis (English)

1 reference

Abderhalden–Kaufmann–Lignac syndrome

9 August 2017

1 reference

William A. Gahl

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14610675

31 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14610675

31 March 2024

publication date

11 November 2003

1 reference

full work available at URL

9 August 2017

http://link.springer.com/content/pdf/10.1007/s00431-003-1349-x.pdf

file format

Portable Document Format

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00431-003-1349-X

http://link.springer.com/article/10.1007/s00431-003-1349-x/fulltext.html

31 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00431-003-1349-X

http://link.springer.com/content/pdf/10.1007/s00431-003-1349-x

31 March 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1007/S00431-003-1349-X

European Journal of Pediatrics

31 March 2024

published in

1 reference

9 August 2017

162 Suppl 1

1 reference

9 August 2017

S38-41

1 reference

https://scigraph.springernature.com/pub.10.1007/s00431-003-1349-x

9 August 2017

0 references

cites work

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

1 reference

12 December 2020

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis

1 reference

12 December 2020

CTNS mutations in an American-based population of cystinosis patients

1 reference

12 December 2020

Complications of nephropathic cystinosis after renal failure

1 reference

12 December 2020

Classic nephropathic cystinosis as an adult disease

1 reference

12 December 2020

Parenchymal organ cystine depletion with long-term cysteamine therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?

1 reference

12 December 2020

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

1 reference

12 December 2020

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops

1 reference

12 December 2020

Pulmonary dysfunction in adults with nephropathic cystinosis

1 reference

12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Cysteamine therapy for children with nephropathic cystinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis

1 reference

12 December 2020

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

1 reference

12 December 2020

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

1 reference

12 December 2020

Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange

1 reference

12 December 2020

Removal of corneal crystals by topical cysteamine in nephropathic cystinosis

1 reference

12 December 2020

Cystinosis coming of age.

1 reference

12 December 2020

Identifiers

DOI

1 reference

release_tj4qbwznmjct3phdq2eeuojae4

9 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tj4qbwznmjct3phdq2eeuojae4

24 November 2022

mapped directly with Wikidata item

1 reference