{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:26:41Z","timestamp":1777436801949,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T00:00:00Z","timestamp":1466467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Rocket Fund and the National Institutes of Health","award":["R01DK099551"],"award-info":[{"award-number":["R01DK099551"]}]},{"name":"National Human Genome Research Institute and the National Heart, Lung and Blood Institute","award":["1U54HG006493"],"award-info":[{"award-number":["1U54HG006493"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi\u2010system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene <jats:italic>ALG1<\/jats:italic> and a renal biopsy consistent with congenital NS. Furthermore, we briefly review rare existing case reports documenting congenital NS in patients with mutations in <jats:italic>ALG1<\/jats:italic>, and treatment strategies, including novel use of peritoneal dialysis.<\/jats:p>","DOI":"10.1111\/ped.12988","type":"journal-article","created":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T06:39:27Z","timestamp":1466491167000},"page":"785-788","source":"Crossref","is-referenced-by-count":16,"title":["Congenital nephrotic syndrome in an infant with <i>ALG1<\/i>\u2010congenital disorder of glycosylation"],"prefix":"10.1111","volume":"58","author":[{"given":"Lyndsay A","family":"Harshman","sequence":"first","affiliation":[{"name":"Division of Pediatric Nephrology, Stead Family Department of Pediatrics University of Iowa Children's Hospital  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bobby G","family":"Ng","sequence":"additional","affiliation":[{"name":"Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute Sanford Children's Health Research Center  La Jolla CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hudson H","family":"Freeze","sequence":"additional","affiliation":[{"name":"Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute Sanford Children's Health Research Center  La Jolla CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Trapane","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Stead Family Department of Pediatrics University of Iowa Children's Hospital  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Dolezal","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick D","family":"Brophy","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Stead Family Department of Pediatrics University of Iowa Children's Hospital  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane E","family":"Brumbaugh","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Stead Family Department of Pediatrics University of Iowa Children's Hospital  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp226"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/382493"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799174"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0822-0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.72.5.445"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22983"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200211000-00003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-2711"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005496920435"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0633-9"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.013"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12988","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12988","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12988","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T01:53:04Z","timestamp":1694656384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12988"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,21]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1111\/ped.12988"],"URL":"https:\/\/doi.org\/10.1111\/ped.12988","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,21]]}}}