{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T19:16:22Z","timestamp":1771528582144,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1991,9,12]],"date-time":"1991-09-12T00:00:00Z","timestamp":684633600000},"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":[[1992,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We describe an Ashkenazi Jewish family in which two adults, offspring of consanguineous parents, have persistent hypertyrosinaemia (770\u20131110 \u00b5mol\/L; normal &lt; 110 \u00b5mol\/L). The metabolic disorder in this family is apparently due to hepatic cytosolic tyrosine aminotransferase deficiency (hereditary tyrosinaemia, type II; McKusick, 276600), because it is associated with the oculocutaneous manifestations of Richner\u2010Hanhart syndrome. The association of this syndrome with hereditary tyrosinaemia type II is presumed to be constant. It is not in this family. The affected female sib (age 41 years) has hypertyrosinaemia and oculocutaneous signs; the brother (age 39 years) has hypertyrosinaemia but no oculocutaneous disease. Both sibs have two children; none has signs of a metabolic fetopathy. Maternal hypertyrosinaemia and maternal hyperphenylalaninaemia evidently constitute different risk factors for the fetus. Paternal hypertyrosinaemia is apparently not a risk to male infertility.<\/jats:p>","DOI":"10.1007\/bf01799631","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:23:37Z","timestamp":1119374617000},"page":"198-203","source":"Crossref","is-referenced-by-count":21,"title":["Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus"],"prefix":"10.1002","volume":"15","author":[{"given":"D.","family":"Chitayat","sequence":"first","affiliation":[{"name":"A\u2010707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"The Center for Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Balbul","sequence":"additional","affiliation":[{"name":"Department of Dermatology Montreal General Hospital  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Hani","sequence":"additional","affiliation":[{"name":"The Center for Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. A.","family":"Mamer","sequence":"additional","affiliation":[{"name":"The MRC Biomedical Mass Spectroscopy Unit McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Clow","sequence":"additional","affiliation":[{"name":"A\u2010707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"The Center for Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. R.","family":"Scriver","sequence":"additional","affiliation":[{"name":"A\u2010707, DeBelle Laboratory for Biochemical Genetics, The Division of Medical Genetics The Montreal Children's Hospital  2300 Tupper Street Montreal Quebec H3H 1P3 Canada"},{"name":"The Center for Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1991,9,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000308631"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12500027"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000166826"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198302000-00002"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00830a023"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799723"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198012000-00117"},{"key":"e_1_2_1_9_1","first-page":"173","article-title":"Oculocutaneos tyrosinosis: report of two cases in the same family","volume":"32","author":"Garibaldi LR","year":"1977","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_10_1","first-page":"279","article-title":"La tirosinosi oculocutanea. Un problema italiano?","volume":"1","author":"Garibaldi L","year":"1979","journal-title":"Med Surg Pediatr"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(01)82316-5"},{"key":"e_1_2_1_12_1","first-page":"547","volume-title":"The Metabolic Basis of Inherited Disease","author":"Goldsmith LA","year":"1989"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000255917"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000250493"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197107000-00002"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90249-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198011203032104"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80038-1"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/bms.1200070203"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1542\/peds.57.5.675","article-title":"Intellectual deficits after transient tyrosinemia in the term neonate","volume":"57","author":"Mamunes P","year":"1976","journal-title":"Pediatrics"},{"issue":"4","key":"e_1_2_1_21_1","first-page":"104","article-title":"Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II","volume":"49","author":"Natt E","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000240353"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1981.tb15320.x"},{"key":"e_1_2_1_24_1","first-page":"580","article-title":"Hornhautaffektion bei Keratoma palmare et plantare hereditarium","volume":"100","author":"Richner H","year":"1938","journal-title":"Klin Monatsol Augenh"},{"key":"e_1_2_1_25_1","first-page":"515","volume-title":"Genetics and Ophthalmology, vol. 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