{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:56:59Z","timestamp":1792601819022,"version":"4.5.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2013,11,2]],"date-time":"2013-11-02T00:00:00Z","timestamp":1383350400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1007\/s00467-013-2643-0","type":"journal-article","created":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T06:47:46Z","timestamp":1383288466000},"page":"391-396","source":"Crossref","is-referenced-by-count":34,"title":["Clinical and genetic features in autosomal recessive and X-linked Alport syndrome"],"prefix":"10.1007","volume":"29","author":[{"given":"Yanyan","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Sivakumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mardhiah","family":"Mohammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deb","family":"Colville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Storey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Flinter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayat","family":"Dagher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Savige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,11,2]]},"reference":[{"key":"2643_CR1","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/0002-9343(81)90571-4","volume":"70","author":"M Gubler","year":"1981","unstructured":"Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R (1981) Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med 70:493\u2013505","journal-title":"Am J Med"},{"key":"2643_CR2","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0140-6736(88)90753-2","volume":"2","author":"FA Flinter","year":"1988","unstructured":"Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M (1988) Genetics of classic Alport's syndrome. Lancet 2:1005\u20131007","journal-title":"Lancet"},{"key":"2643_CR3","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ki.1985.63","volume":"27","author":"J Feingold","year":"1985","unstructured":"Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672\u2013677","journal-title":"Kidney Int"},{"key":"2643_CR4","doi-asserted-by":"crossref","unstructured":"Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224\u20131227","DOI":"10.1126\/science.2349482"},{"key":"2643_CR5","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","volume":"8","author":"T Mochizuki","year":"1994","unstructured":"Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, Reeders ST (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77\u201381","journal-title":"Nat Genet"},{"key":"2643_CR6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.3109\/13816819709057125","volume":"18","author":"D Colville","year":"1997","unstructured":"Colville D, Savige J, Morfis M, Ellis J, Kerr P, Agar J, Fasset R (1997) Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genet 18:119\u2013128","journal-title":"Ophthalmic Genet"},{"key":"2643_CR7","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649\u2013657","journal-title":"J Am Soc Nephrol"},{"key":"2643_CR8","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1046\/j.1523-1755.2003.00234.x","volume":"64","author":"J Savige","year":"2003","unstructured":"Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (2003) Thin basement membrane nephropathy. Kidney Int 64:1169\u20131178","journal-title":"Kidney Int"},{"key":"2643_CR9","doi-asserted-by":"crossref","unstructured":"Hertz JM, Thomassen M, Storey H, Flinter F (2012) Clinical utility gene card for: Alport syndrome. Eur J Hum Genet 20","DOI":"10.1038\/ejhg.2011.237"},{"key":"2643_CR10","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1038\/ki.1994.413","volume":"46","author":"K Nakanishi","year":"1994","unstructured":"Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y (1994) Immunohistochemical study of alpha 1\u20135 chains of type IV collagen in hereditary nephritis. Kidney Int 46:1413\u20131421","journal-title":"Kidney Int"},{"key":"2643_CR11","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1046\/j.1523-1755.1999.00357.x","volume":"55","author":"FT Loop van der","year":"1999","unstructured":"van der Loop FT, Monnens LA, Schroder CH, Lemmink HH, Breuning MH, Timmer ED, Smeets HJ (1999) Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int 55:1217\u20131224","journal-title":"Kidney Int"},{"key":"2643_CR12","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1093\/ndt\/14.3.627","volume":"14","author":"R Torra","year":"1999","unstructured":"Torra R, Badenas C, Cofan F, Callis L, Perez-Oller L, Darnell A (1999) Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. Nephrol Dial Transplant 14:627\u2013630","journal-title":"Nephrol Dial Transplant"},{"key":"2643_CR13","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ki.1995.163","volume":"47","author":"MC Gubler","year":"1995","unstructured":"Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C (1995) Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 47:1142\u20131147","journal-title":"Kidney Int"},{"key":"2643_CR14","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/BF00433075","volume":"364","author":"HJ Rumpelt","year":"1974","unstructured":"Rumpelt HJ, Langer KH, Scharer K, Straub E, Thoenes W (1974) Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport's syndrome). Virchows Arch A Pathol Anat Histol 364:225\u2013233","journal-title":"Virchows Arch A Pathol Anat Histol"},{"key":"2643_CR15","doi-asserted-by":"crossref","first-page":"198","DOI":"10.2215\/CJN.00200110","volume":"6","author":"H Hanson","year":"2011","unstructured":"Hanson H, Storey H, Pagan J, Flinter F (2011) The value of clinical criteria in identifying patients with X-linked Alport syndrome. Clin J Am Soc Nephrol 6:198\u2013203","journal-title":"Clin J Am Soc Nephrol"},{"key":"2643_CR16","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \"European Community Alport Syndrome Concerted Action\" study. J Am Soc Nephrol 14:2603\u20132610","journal-title":"J Am Soc Nephrol"},{"key":"2643_CR17","doi-asserted-by":"crossref","unstructured":"Tan R, Colville D, Wang YY, Rigby L, Savige J (2010) Alport retinopathy results from \"severe\" COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol 5:34\u201338","DOI":"10.2215\/CJN.01030209"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2643-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-013-2643-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-013-2643-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T10:54:23Z","timestamp":1646996063000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-013-2643-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,2]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["2643"],"URL":"https:\/\/doi.org\/10.1007\/s00467-013-2643-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,2]]}}}