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A common pattern of anomalies in patients with malformations (8\/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic periportal necrosis, polycystic kidneys, and genital defects in glutaric aciduria II are reminiscent of those in Zellweger syndrome, whereas elevations of glutaric, ethylmalonic, adipic, and isovaleric acids are quite distinctive. A unique ultrastructural alteration of the glomerular basement membrane was observed in the proposita. This manifestation may represent an early stage in renal cyst formation and provide a diagnostic criterion for glutaric aciduria II when enzyme studies are unavailable.<\/jats:p>","DOI":"10.1002\/ajmg.1320320326","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:28:16Z","timestamp":1118546896000},"page":"395-401","source":"Crossref","is-referenced-by-count":39,"title":["Glutaric aciduria type II: Review of the phenotype and report of an unusual glomerulopathy"],"prefix":"10.1002","volume":"32","author":[{"given":"Golder N.","family":"Wilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"de Chadar\u00e9vian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Loehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank E.","family":"Frerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen I.","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442082"},{"key":"e_1_2_1_3_1","first-page":"846","article-title":"Prenatal diagnosis of dysmorphic neonatal\u2010lethal type II glutaric aciduria","volume":"1","author":"Bove J","year":"1984","journal-title":"Lancet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283677"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410253111704"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197912273012601"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.13.4517"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070210"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047371"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198014010-00004"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80665-9"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80525-8"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02312527"},{"key":"e_1_2_1_14_1","first-page":"399","article-title":"Glutaric acidemia type II: Phenotypic findings and ultrastructural studies of brain and kidney","volume":"110","author":"Harkin JC","year":"1986","journal-title":"Arch Path Lab Med"},{"key":"e_1_2_1_15_1","first-page":"65","article-title":"Glutaric acidemia type II and flavin\u2010dependent enzymes in morphogenesis","volume":"23","author":"Hoganson G","year":"1987","journal-title":"BD:OAS"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442081"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109619"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(76)90060-7"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80629-9"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240109"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320326","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:45:42Z","timestamp":1697978742000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1002\/ajmg.1320320326"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320326","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}