{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T18:31:12Z","timestamp":1758479472859},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1986,5,19]],"date-time":"1986-05-19T00:00:00Z","timestamp":516844800000},"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":[[1987,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have reported three cases of hyperornithinaemia associated with hyperammonaemia and homocitrullinuria (HHH). They deal with two brothers and a sister from a family where the parents and four other children are healthy on clinical and biochemical examination. The biochemical findings in our patients indicate the existence of a defect in the transport of ornithine into the mitochondria. Cultured skin fibroblasts from two of these patients incorporated six times less [<jats:sup>14<\/jats:sup>C]ornithine into protein as compared to control cells. The most characteristic sign of the clinical picture is the progressive spastic paraparesis found in one of the cases. Ornithine supplementation and restricted protein intake may be useful in the treatment of this syndrome since after three years of treatment the clinical response was favourable and the patients showed no adverse clinical effects.<\/jats:p>","DOI":"10.1007\/bf01799492","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:54:27Z","timestamp":1119372867000},"page":"73-81","source":"Crossref","is-referenced-by-count":12,"title":["A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria"],"prefix":"10.1002","volume":"10","author":[{"given":"M.","family":"Rodes","sequence":"first","affiliation":[{"name":"Instituto de Bioqu\u00edmica Cl\u00ednica, Apartado de Correos  145 Cerdanyola Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ribes","sequence":"additional","affiliation":[{"name":"Instituto de Bioqu\u00edmica Cl\u00ednica, Apartado de Correos  145 Cerdanyola Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pineda","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Biochemistry Hospital de San Juan de Dios  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Biochemistry Hospital de San Juan de Dios  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Fabregas","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Biochemistry Hospital de San Juan de Dios  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. Fernandez","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Biochemistry Hospital de San Juan de Dios  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. X.","family":"Coude","sequence":"additional","affiliation":[{"name":"Sanofi Recherche  Toulose France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Grimber","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochemie Gen\u00e9tique Groupe Hospitalier Necker\u2010Enfants Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1986,5,19]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.5925\/jnsv1954.9.217"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1974.02110240138023"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/cber.190904204110"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02310866"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197505000-00006"},{"key":"e_1_2_1_7_1","first-page":"688","article-title":"Studies of the metabolic defect in patients with hyperammonemia, hyperornithinaemia and homocitrullinuria","volume":"24","author":"Gordon B. 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