{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:15:46Z","timestamp":1789953346295,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,7,18]],"date-time":"2007-07-18T00:00:00Z","timestamp":1184716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of N\u2010linked oligosaccharides. CDG\u2010Ia is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of American adults with CDG\u2010Ia are being recognized but little is documented on the morbidity and mortality in this population. These adults have moderate mental retardation, ataxia, retinitis pigmentosa, peripheral neuropathy, kyphoscoliosis, and endocrinopathies. Four adults with CDG\u2010Ia, ages 19\u201336 years old are presented. All are active, dysarthric conversant adults with moderate cognitive impairment. They are ataxic and wheelchair dependent, however, only the oldest man shows significant muscle atrophy. All have diagnosed peripheral neuropathy. Three of four remain on anticonvulsants with only occasional seizures, none have had stroke\u2010like episodes since their teen years. Their skeletal issues include significant kyposcoliosis, joint contractures, and osteopenia. Retinitis pigmentosa and myopia complicate their functional vision. The women do not menstruate and the men have small testes resulting from hypogonadotropic hypogonadism. Documentation of clinical complications and successful management strategies in adults with CDG will improve their quality of life and allow more informed prognostic discussions with families of younger affected individuals. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30143","type":"journal-article","created":{"date-parts":[[2007,7,18]],"date-time":"2007-07-18T22:21:51Z","timestamp":1184797311000},"page":"302-306","source":"Crossref","is-referenced-by-count":47,"title":["Clinical features in adults with congenital disorders of glycosylation type Ia (CDG\u2010Ia)"],"prefix":"10.1002","volume":"145C","author":[{"given":"Donna","family":"Krasnewich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Sparks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.021568"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200403000-00010"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.14"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-19031"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200211000-00003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90059-7"},{"key":"e_1_2_5_8_1","first-page":"1","article-title":"The carbo\u2010deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement","volume":"375","author":"Jaeken J","year":"1991","journal-title":"Acta Paediatr Scand"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.87.4.324"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199807000-00005"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1136-0"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021883605280"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(03)00109-X"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.5.552"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199305000-00024"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.30143","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.30143","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T17:21:36Z","timestamp":1694452896000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.30143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,18]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,8,15]]}},"alternative-id":["10.1002\/ajmg.c.30143"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.30143","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,18]]}}}