{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T13:47:22Z","timestamp":1792504042803,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,2,24]],"date-time":"2007-02-24T00:00:00Z","timestamp":1172275200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long\u2010term outcome of 75 patients. The data were generated from questionnaires to paediatricians in charge of the patients. Thirty of the patients were referred to hospitals before 1 month of age because of positive results in newborn screening (hypergalactosaemia, hypermethioninaemia, and hyperphenylalaninaemia). The other 45, the screen\u2010negative patients, were referred to hospitals with suspected neonatal hepatitis or biliary atresia because of jaundice or discoloured stool. Most of the screen\u2010negative patients presented before 4 months of age, and 11 had failure to thrive. Laboratory data showed elevated serum bile acid concentrations, hypoproteinaemia, low levels of vitamin K\u2010dependent coagulation factors and hypergalactosaemia. Hypoglycaemia was detected in 18 patients. Serum amino acid analyses showed significant elevation of citrulline and methionine concentrations. Most of the patients were given a lactose\u2010free and\/or medium\u2010chain triglyceride\u2010enriched formula and fat\u2010soluble vitamins. Symptoms resolved in all but two of the patients by 12 months of age. The two patients with unresolved symptoms suffered from progressive liver failure and underwent liver transplantation before their first birthday. Another patient developed citrullinaemia type II (CTLN2) at age 16 years. It is important to recognize that NICCD is not always a benign condition.<\/jats:p>","DOI":"10.1007\/s10545-007-0506-1","type":"journal-article","created":{"date-parts":[[2007,2,24]],"date-time":"2007-02-24T14:34:40Z","timestamp":1172327680000},"page":"139-144","source":"Crossref","is-referenced-by-count":124,"title":["Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)"],"prefix":"10.1002","volume":"30","author":[{"given":"T.","family":"Ohura","sequence":"first","affiliation":[{"name":"Depatment of Paediatrics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Molecular Metabolism and Biochemical Genetics Kagoshima University Graduate School of Medicine and Dental Sciences Kagoshima 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Molecular Metabolism and Biochemical Genetics Kagoshima University Graduate School of Medicine and Dental Sciences Kagoshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80282-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00167-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1549-z"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1386-6346(02)00331-5"},{"key":"e_1_2_1_6_1","first-page":"1024","article-title":"A search for the primary abnormality in adult\u2010onset type II citrullinemia","volume":"53","author":"Kobayashi K","year":"1993","journal-title":"Am J Hum 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