{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:05:53Z","timestamp":1792033553197,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001297","name":"The Elisabeth Severance Prentiss Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001297","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001308","name":"The Reinberger Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001308","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Leonard Krieger Fund of the Cleveland Foundation","award":["L2009-0078"],"award-info":[{"award-number":["L2009-0078"]}]},{"name":"The William Bingham Foundation"},{"name":"Zverina Family Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:p>Ganglioside <jats:styled-content style=\"fixed-case\">GM3<\/jats:styled-content> synthase is a key enzyme involved in the biosynthesis of gangliosides. <jats:styled-content style=\"fixed-case\">GM3<\/jats:styled-content> synthase deficiency (<jats:styled-content style=\"fixed-case\">GSD<\/jats:styled-content>) causes a complete absence of <jats:styled-content style=\"fixed-case\">GM3<\/jats:styled-content> and all downstream biosynthetic derivatives. The individuals affected by this disorder manifest severe irritability, intractable seizures and profound intellectual disability. However, we have found that most newborns seem symptom\u2010free for a period of time after birth. In order to further understand the onset of the disease, we investigated the early growth and development of patients with this condition through this study. We compared 37 affected individuals with their normal siblings and revealed that all children with <jats:styled-content style=\"fixed-case\">GSD<\/jats:styled-content> had relatively normal intrauterine growth and development, as their weight, length and head circumference were similar to their normal siblings at birth. However, the disease progresses quickly after birth and causes significant constitutional impairments of growth and development by 6 months of age. Neither breastfeeding nor gastrostomy tube placement made significant difference on growth and development as all groups of patients showed the similar pattern. We conclude that <jats:styled-content style=\"fixed-case\">GSD<\/jats:styled-content> causes significant postnatal growth and developmental impairments and the amount of gangliosides in breast milk and general nutritional intervention do not seem to alter these outcomes.<\/jats:p>","DOI":"10.1111\/cge.12703","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T19:23:44Z","timestamp":1449689024000},"page":"625-629","source":"Crossref","is-referenced-by-count":28,"title":["Early growth and development impairments in patients with ganglioside <scp>GM3<\/scp> synthase deficiency"],"prefix":"10.1111","volume":"89","author":[{"given":"H.","family":"Wang","sequence":"first","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"},{"name":"Department of Pediatrics Case Western Reserve University School of Medicine  Cleveland OH USA"},{"name":"Department of Pediatrics Rainbow Babies &amp; Children's Hospital  Cleveland OH USA"},{"name":"Department of Molecular Cardiology Cleveland Clinic  Cleveland OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Wang","sequence":"additional","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Wang","sequence":"additional","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bright","sequence":"additional","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Sency","sequence":"additional","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Chemistry Cleveland State University  Cleveland OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Xin","sequence":"additional","affiliation":[{"name":"DDC Clinic Center for Special Needs Children  Middlefield OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1460"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.202"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt434"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810600862626"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35826"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2011.12.018"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2015.03.007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.006"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12050"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv041"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2014.03.014"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nutres.2010.04.005"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.15-270983"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-3782(99)00051-1"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/78.5.1024"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12703","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12703","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:46:16Z","timestamp":1696369576000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,20]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/cge.12703"],"URL":"https:\/\/doi.org\/10.1111\/cge.12703","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,20]]}}}