scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1039300187 |
P356 | DOI | 10.1203/PDR.0B013E31809FDA89 |
P698 | PubMed publication ID | 17597652 |
P50 | author | Corinne Antignac | Q28320591 |
Vasiliki Kalatzis | Q37367292 | ||
Eric J Kremer | Q42671992 | ||
P2093 | author name string | Christian Hamel | |
François Malecaze | |||
Chantal Cazevieille | |||
Tangui Maurice | |||
Carl Arndt | |||
Nicolas Serratrice | |||
Olivier Payet | |||
Claire Hippert | |||
Agnes Müller | |||
P2860 | cites work | Cystinosis | Q24262959 |
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis | Q24322985 | ||
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin | Q24338721 | ||
Intraocular pressure in genetically distinct mice: an update and strain survey | Q24803197 | ||
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter | Q27937730 | ||
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis | Q28591791 | ||
NIH conference. Cystinosis: progress in a prototypic disease | Q39523964 | ||
Cystinosis. Histologic and crystallographic examination of crystals in eye tissues | Q43601341 | ||
Tonopen measurement of intraocular pressure in mice | Q44809766 | ||
Alterations of Pigment Epithelium in Cystinosis | Q44858327 | ||
Prenatal Diagnosis of Cystinosis | Q45178464 | ||
Cystine: binding protein assay. | Q54769397 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 156-162 | |
P577 | publication date | 2007-08-01 | |
P1433 | published in | Pediatric Research | Q7159215 |
P1476 | title | The ocular anomalies in a cystinosis animal model mimic disease pathogenesis | |
P478 | volume | 62 |
Q34241822 | Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants. |
Q36219639 | Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector |
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Q27023975 | Is genetic rescue of cystinosis an achievable treatment goal? |
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Q88779781 | Potential use of stem cells as a therapy for cystinosis |
Q28506311 | Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse |
Q37786450 | The pathogenesis of cystinosis: mechanisms beyond cystine accumulation |
Q38781097 | The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives |
Q36267895 | Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation |
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