{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T05:46:18Z","timestamp":1726292778538},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2007,7,19]],"date-time":"2007-07-19T00:00:00Z","timestamp":1184803200000},"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":[[2007,12]]},"DOI":"10.1007\/s00467-007-0536-9","type":"journal-article","created":{"date-parts":[[2007,7,18]],"date-time":"2007-07-18T08:20:21Z","timestamp":1184746821000},"page":"2119-2124","source":"Crossref","is-referenced-by-count":10,"title":["Cystic renal dysplasia as a leading sign of inherited metabolic disease"],"prefix":"10.1007","volume":"22","author":[{"given":"Felix","family":"Distelmaier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Spiekerk\u00f6tter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Gempel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dirk","family":"Klee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Braunstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz-Peter","family":"Groneck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ertan","family":"Mayatepek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udo","family":"Wendel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Schwahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,7,19]]},"reference":[{"key":"536_CR1","first-page":"357","volume-title":"The metabolic and molecular bases of inherited disease","author":"FE Frerman","year":"2001","unstructured":"Frerman FE, Goodman SI (2001) Defects of electron transfer flavo-protein and electron transfer flavoprotein-ubiquinone oxidoreductase:glutaric acidemia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw Hill, New York, pp 2357\u20132365"},{"key":"536_CR2","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1006\/mgme.1999.2938","volume":"68","author":"JP Bonnefont","year":"1999","unstructured":"Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L (1999) Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68:424\u2013440","journal-title":"Mol Genet Metab"},{"key":"536_CR3","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1146\/annurev.bi.49.070180.002143","volume":"49","author":"JD McGarry","year":"1980","unstructured":"McGarry JD, Foster DW (1980) Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 49:395\u2013420","journal-title":"Annu Rev Biochem"},{"key":"536_CR4","doi-asserted-by":"publisher","first-page":"115A","DOI":"10.1203\/00006450-198902000-00001","volume":"25","author":"G Hug","year":"1989","unstructured":"Hug G, Soukup S, Berry H, Bove K (1989) Carnitine palmityl transferase (CPT): deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine. Pediatr Res 25:115A","journal-title":"Pediatr Res"},{"key":"536_CR5","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1016\/S0022-3476(95)70073-0","volume":"127","author":"KN North","year":"1995","unstructured":"North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127:414\u2013420","journal-title":"J Pediatr"},{"key":"536_CR6","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1002\/ajmg.1457","volume":"102","author":"ON Elpeleg","year":"2001","unstructured":"Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M (2001) Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet 102:183\u2013187","journal-title":"Am J Med Genet"},{"key":"536_CR7","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/0009-8981(76)90060-7","volume":"66","author":"H Przyrembel","year":"1976","unstructured":"Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, Wadman SK (1976) Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta 66:227\u2013239","journal-title":"Clin Chim Acta"},{"key":"536_CR8","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1007\/BF00442081","volume":"139","author":"W Lehnert","year":"1982","unstructured":"Lehnert W, Wendel U, Lindenmaier S, Bohm N (1982) Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings. Eur J Pediatr 139:56\u201359","journal-title":"Eur J Pediatr"},{"key":"536_CR9","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1002\/ajmg.1320320326","volume":"32","author":"GN Wilson","year":"1989","unstructured":"Wilson GN, de Chadarevian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI (1989) Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. Am J Med Genet 32:395\u2013401","journal-title":"Am J Med Genet"},{"key":"536_CR10","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/S1096-7192(03)00024-6","volume":"78","author":"A Curcoy","year":"2003","unstructured":"Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N (2003) Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab 78:247\u2013249","journal-title":"Mol Genet Metab"},{"key":"536_CR11","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1007\/BF00442082","volume":"139","author":"N Bohm","year":"1982","unstructured":"Bohm N, Uy J, Kiessling M, Lehnert W (1982) Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Eur J Pediatr 139:60\u201365","journal-title":"Eur J Pediatr"},{"key":"536_CR12","first-page":"399","volume":"110","author":"JC Harkin","year":"1986","unstructured":"Harkin JC, Gill WL, Shapira E (1986) Glutaric acidemia type II. phenotypic findings and ultrastructural studies of brain and kidney. Arch Path Lab Med 110:399\u2013401","journal-title":"Arch Path Lab Med"},{"key":"536_CR13","first-page":"1133","volume":"112","author":"AD Colevas","year":"1988","unstructured":"Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II: comparison of pathologic features in two infants. Arch Path Lab Med 112:1133\u20131139","journal-title":"Arch Path Lab Med"},{"key":"536_CR14","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0301-2115(99)00182-7","volume":"89","author":"W Friedmann","year":"2000","unstructured":"Friedmann W, Vogel M, Dimer JS, Luttkus A, Buscher U, Dudenhausen JW (2000) Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings. Eur J Obstet Gynecol Reprod Biol 89:127\u2013133","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"536_CR15","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1007\/s00467-006-0164-9","volume":"21","author":"LM Guay-Woodford","year":"2006","unstructured":"Guay-Woodford LM (2006) Renal cystic diseases: diverse phenotypes converge on the cilium\/centrosome complex. Pediatr Nephrol 21:1369\u20131376","journal-title":"Pediatr Nephrol"},{"key":"536_CR16","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1097\/01.pap.0000201831.77472.d3","volume":"13","author":"M Bisceglia","year":"2006","unstructured":"Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006) Renal cystic disease\u2014a review. Adv Anat Pathol 13:26\u201356","journal-title":"Adv Anat Pathol"},{"key":"536_CR17","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1007\/BF00445792","volume":"143","author":"PD Mooy","year":"1984","unstructured":"Mooy PD, Przyrembel H, Giesberts MA, Scholte HR, Blom W, van Gelderen HH (1984) Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. Eur J Pediatr 143:92\u201395","journal-title":"Eur J Pediatr"},{"key":"536_CR18","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1053\/siny.2001.0084","volume":"7","author":"H Ogier de Baulny","year":"2002","unstructured":"Ogier de Baulny H (2002) Management and emergency treatment of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol 7:17\u201326","journal-title":"Semin Neonatol"},{"key":"536_CR19","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1007\/978-3-662-04285-4_11","volume-title":"Inborn metabolic diseases. Diagnosis and treatment","author":"CA Stanley","year":"2000","unstructured":"Stanley CA (2000) Disorders of fatty acid oxidation. In: Fernandes J, Saudubray JM, Van den Berghe G (eds) (2000) Inborn metabolic diseases. Diagnosis and treatment, 3rd edn. Springer, Berlin, pp 140\u2013150","edition":"3"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0536-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-007-0536-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0536-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0536-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T12:05:50Z","timestamp":1578485150000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-007-0536-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,19]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["536"],"URL":"https:\/\/doi.org\/10.1007\/s00467-007-0536-9","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,19]]}}}