{"id":"https://openalex.org/W1987828394","doi":"https://doi.org/10.1203/pdr.0b013e31809fda89","title":"The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis","display_name":"The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis","publication_year":2007,"publication_date":"2007-07-10","ids":{"openalex":"https://openalex.org/W1987828394","doi":"https://doi.org/10.1203/pdr.0b013e31809fda89","mag":"1987828394","pmid":"https://pubmed.ncbi.nlm.nih.gov/17597652"},"language":"en","primary_location":{"id":"doi:10.1203/pdr.0b013e31809fda89","doi":"https://doi.org/10.1203/pdr.0b013e31809fda89","is_oa":false,"landing_page_url":"https://doi.org/10.1203/pdr.0b013e31809fda89","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5102839377","display_name":"Vasiliki Kalatzis","orcid":"https://orcid.org/0000-0002-9626-8807","observed_orcids":["https://orcid.org/0000-0002-9626-8807"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210114166","display_name":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier","ror":"https://ror.org/02785qs39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I19894307","https://openalex.org/I4210096427","https://openalex.org/I4210114166"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Vasiliki Kalatzis","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, France. vasiliki.kalatzis@igmm.cnrs.fr","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, France. vasiliki.kalatzis@igmm.cnrs.fr","institution_ids":["https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008125625","display_name":"Nicolas Serratrice","orcid":"https://orcid.org/0000-0002-9419-1463","observed_orcids":["https://orcid.org/0000-0002-9419-1463"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210114166","display_name":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier","ror":"https://ror.org/02785qs39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I19894307","https://openalex.org/I4210096427","https://openalex.org/I4210114166"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Serratrice","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","institution_ids":["https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040558375","display_name":"Claire Hippert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210114166","display_name":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier","ror":"https://ror.org/02785qs39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I19894307","https://openalex.org/I4210096427","https://openalex.org/I4210114166"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Claire Hippert","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","institution_ids":["https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055877808","display_name":"Olivier Payet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Olivier Payet","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061783443","display_name":"Carl Arndt","orcid":"https://orcid.org/0000-0003-2680-7630","observed_orcids":["https://orcid.org/0000-0003-2680-7630"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Carl Arndt","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, 75015, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, 75015, France","institution_ids":["https://openalex.org/I4387156284"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, France","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016678467","display_name":"Chantal Cazevieille","orcid":"https://orcid.org/0000-0003-4113-1309","observed_orcids":["https://orcid.org/0000-0003-4113-1309"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Chantal Cazevieille","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045510832","display_name":"Tangui Maurice","orcid":"https://orcid.org/0000-0002-4074-6793","observed_orcids":["https://orcid.org/0000-0002-4074-6793"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I4387154756","display_name":"Universit\u00e9 Montpellier 2","ror":"https://ror.org/00wh4bp03","country_code":"FR","type":"education","lineage":["https://openalex.org/I19894307","https://openalex.org/I4387154756"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Tangui Maurice","raw_affiliation_strings":["EPHE, Paris, 75017, France","Inserm U710, Montpellier, 34095, France","Universit\u00e9 de Montpellier II, Montpellier, 34095, France","Inserm U710, Montpellier, France","Universit\u00e9 de Montpellier II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"EPHE, Paris, 75017, France","institution_ids":["https://openalex.org/I159885104"]},{"raw_affiliation_string":"Inserm U710, Montpellier, 34095, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 de Montpellier II, Montpellier, 34095, France","institution_ids":["https://openalex.org/I4387154756"]},{"raw_affiliation_string":"Inserm U710, Montpellier, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 de Montpellier II, Montpellier, France","institution_ids":["https://openalex.org/I4387154756"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108348684","display_name":"Christian Hamel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210114166","display_name":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier","ror":"https://ror.org/02785qs39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I19894307","https://openalex.org/I4210096427","https://openalex.org/I4210114166"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christian Hamel","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","institution_ids":["https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046053586","display_name":"Fran\u00e7ois Malecaze","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210138343","display_name":"H\u00f4pital Purpan","ror":"https://ror.org/03vcx3f97","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017","https://openalex.org/I4210138343"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fran\u00e7ois Malecaze","raw_affiliation_strings":["D\u00e9partement d'Ophtalmologie, H\u00f4pital Purpan, Toulouse, 31059, France","Inserm U563, H\u00f4pital Purpan, Toulouse, 31059, France","Inserm U563, H\u00f4pital Purpan, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement d'Ophtalmologie, H\u00f4pital Purpan, Toulouse, 31059, France","institution_ids":["https://openalex.org/I4210138343"]},{"raw_affiliation_string":"Inserm U563, H\u00f4pital Purpan, Toulouse, 31059, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210138343"]},{"raw_affiliation_string":"Inserm U563, H\u00f4pital Purpan, Toulouse, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210138343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067853725","display_name":"Corinne Antignac","orcid":"https://orcid.org/0000-0002-9934-4940","observed_orcids":["https://orcid.org/0000-0002-9934-4940"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Corinne Antignac","raw_affiliation_strings":["Inserm U574, Paris, 75015, France","UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, 75015, France","Inserm U574, Paris, France","UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U574, Paris, 75015, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, 75015, France","institution_ids":["https://openalex.org/I4387156284"]},{"raw_affiliation_string":"Inserm U574, Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"UMRS574, Facult\u00e9 de M\u00e9decine Ren\u00e9 Descartes, Universit\u00e9 Paris Descartes, Paris, France","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107484580","display_name":"Agn\u00e8s M\u00fcller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210134790","display_name":"Institute for Neurosciences of Montpellier","ror":"https://ror.org/0428ctr80","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210134790"]},{"id":"https://openalex.org/I4210143740","display_name":"H\u00f4pital Saint Eloi","ror":"https://ror.org/04pwyfk22","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210143740"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Agnes M\u00fcller","raw_affiliation_strings":["Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, 34091, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]},{"raw_affiliation_string":"Inserm U583, Institut des Neurosciences de Montpellier, H\u00f4pital St. Eloi, Montpellier, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210134790","https://openalex.org/I4210143740"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018177526","display_name":"Eric J. Kremer","orcid":"https://orcid.org/0000-0001-6114-7530","observed_orcids":["https://orcid.org/0000-0001-6114-7530"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I4210114166","display_name":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier","ror":"https://ror.org/02785qs39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I19894307","https://openalex.org/I4210096427","https://openalex.org/I4210114166"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Eric J Kremer","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier, Montpellier, 34293, France","institution_ids":["https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, 34293, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]},{"raw_affiliation_string":"UMR 5535 CNRS-Universit\u00e9s Montpellier I&II, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5102839377"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210114166"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":2.5974,"has_fulltext":true,"cited_by_count":33,"citation_normalized_percentile":{"value":0.88253981,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"62","issue":"2","first_page":"156","last_page":"162"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T14415","display_name":"Biomedical Research and Pathophysiology","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T14415","display_name":"Biomedical Research and Pathophysiology","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cystinosis","display_name":"cystinosis","score":1.0},{"id":"https://openalex.org/keywords/cystinosin","display_name":"cystinosin","score":0.8420000076293945},{"id":"https://openalex.org/keywords/cystine-crystals","display_name":"cystine crystals","score":0.7839999794960022},{"id":"https://openalex.org/keywords/corneal-lesions","display_name":"corneal lesions","score":0.7549999952316284},{"id":"https://openalex.org/keywords/intraocular-pressure","display_name":"intraocular pressure","score":0.7599999904632568},{"id":"https://openalex.org/keywords/photophobia","display_name":"photophobia","score":0.968999981880188},{"id":"https://openalex.org/keywords/electroretinography","display_name":"electroretinogram","score":0.8859999775886536},{"id":"https://openalex.org/keywords/lens","display_name":"lens","score":0.42100000381469727},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8600000143051147},{"id":"https://openalex.org/keywords/animal-model-validation","display_name":"animal model validation","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C2778518273","wikidata":"https://www.wikidata.org/wiki/Q1149042","display_name":"Cystinosis","level":5,"score":0.9906319975852966},{"id":"https://openalex.org/C2777608289","wikidata":"https://www.wikidata.org/wiki/Q408626","display_name":"Cystine","level":4,"score":0.720370352268219},{"id":"https://openalex.org/C2780590625","wikidata":"https://www.wikidata.org/wiki/Q281289","display_name":"Photophobia","level":2,"score":0.6517292261123657},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5503482222557068},{"id":"https://openalex.org/C2776882836","wikidata":"https://www.wikidata.org/wiki/Q168291","display_name":"Cornea","level":2,"score":0.5105255842208862},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.4649008512496948},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.44543036818504333},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4016101062297821},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.4002391993999481},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.372764527797699},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3043575882911682},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.13577789068222046},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0},{"id":"https://openalex.org/C2779201268","wikidata":"https://www.wikidata.org/wiki/Q186474","display_name":"Cysteine","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002829","descriptor_name":"Choroid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002829","descriptor_name":"Choroid","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002924","descriptor_name":"Ciliary Body","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002924","descriptor_name":"Ciliary Body","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003315","descriptor_name":"Cornea","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003315","descriptor_name":"Cornea","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D003554","descriptor_name":"Cystinosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003554","descriptor_name":"Cystinosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003554","descriptor_name":"Cystinosis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003554","descriptor_name":"Cystinosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D003554","descriptor_name":"Cystinosis","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005123","descriptor_name":"Eye","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005123","descriptor_name":"Eye","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005123","descriptor_name":"Eye","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D005128","descriptor_name":"Eye Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D005128","descriptor_name":"Eye Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005128","descriptor_name":"Eye Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005128","descriptor_name":"Eye Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005128","descriptor_name":"Eye Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D007429","descriptor_name":"Intraocular Pressure","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007498","descriptor_name":"Iris","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007498","descriptor_name":"Iris","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D007908","descriptor_name":"Lens, Crystalline","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007908","descriptor_name":"Lens, Crystalline","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012590","descriptor_name":"Sclera","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012590","descriptor_name":"Sclera","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020795","descriptor_name":"Photophobia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020795","descriptor_name":"Photophobia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020795","descriptor_name":"Photophobia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D026921","descriptor_name":"Amino Acid Transport Systems, Neutral","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D026921","descriptor_name":"Amino Acid Transport Systems, Neutral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D026921","descriptor_name":"Amino Acid Transport Systems, Neutral","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1203/pdr.0b013e31809fda89","doi":"https://doi.org/10.1203/pdr.0b013e31809fda89","is_oa":false,"landing_page_url":"https://doi.org/10.1203/pdr.0b013e31809fda89","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},{"id":"pmid:17597652","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17597652","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric research","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9074000120162964,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320314349","display_name":"Cystinosis Research Network","ror":"https://ror.org/011mehy86"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1785865236","https://openalex.org/W1983535875","https://openalex.org/W1985677425","https://openalex.org/W1992286944","https://openalex.org/W2002664886","https://openalex.org/W2006911860","https://openalex.org/W2012412619","https://openalex.org/W2019989913","https://openalex.org/W2023908022","https://openalex.org/W2029870086","https://openalex.org/W2032000491","https://openalex.org/W2032200785","https://openalex.org/W2032475115","https://openalex.org/W2033565332","https://openalex.org/W2049236666","https://openalex.org/W2079152020","https://openalex.org/W2093248632","https://openalex.org/W2103153979","https://openalex.org/W2122234414","https://openalex.org/W2122416187","https://openalex.org/W2144432538","https://openalex.org/W2166434963","https://openalex.org/W2170314570","https://openalex.org/W2197955953","https://openalex.org/W2209824239","https://openalex.org/W2236970329","https://openalex.org/W2474023059","https://openalex.org/W4298506620"],"related_works":["https://openalex.org/W2170314570","https://openalex.org/W3214114783","https://openalex.org/W4229029421","https://openalex.org/W4319069683","https://openalex.org/W4387820274","https://openalex.org/W1993655702","https://openalex.org/W3203305033","https://openalex.org/W2955448277","https://openalex.org/W4404704270","https://openalex.org/W2085905503"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}