{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T19:03:44Z","timestamp":1780340624599,"version":"3.54.1"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"622","license":[{"start":{"date-parts":[[1977,8,1]],"date-time":"1977-08-01T00:00:00Z","timestamp":239241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1977,8,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>The skeletal changes of thirty-four patients with the biochemical and clinical features of cystathionine synthase deficiency are described. It is emphasized that there is clinical evidence of excessive bone growth and the formation for bone which is structurally weaker than normal. The similarities and differences between this condition and Marfan's syndrome are stressed and the possible nature of the connective tissue defect leading to the skeletal changes discussed. The most characteristic skeletal changes in homocystinuria are the skeletal disproportion (pubis-heel length greater than crown-pubis length), the abnormal vertebrae, sternal deformities, genu valgum and large metaphyses and epiphyses.<\/jats:p>","DOI":"10.1136\/pgmj.53.622.488","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T20:39:26Z","timestamp":1230583166000},"page":"488-496","source":"Crossref","is-referenced-by-count":35,"title":["Skeletal abnormalities in homocystinuria"],"prefix":"10.1093","volume":"53","author":[{"given":"D P","family":"Brenton","sequence":"first","affiliation":[{"name":"Department ofHuman Metabolism, University College Hospital Medical School , University Street, London"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[1977,8,1]]},"reference":[{"key":"ref_1","first-page":"277","article-title":"Homocystinuria and Marfan's syndrome","volume":"54","author":"BRENTON, D.P.; Dow, C.J.; JAMES, J.I.P.; HAY, R.L.; WYNNE-DAVIEs, R.","year":"1972","unstructured":"BRENTON, D.P., Dow, C.J., JAMES, J.I.P., HAY, R.L. & WYNNE-DAVIEs, R. (1972) Homocystinuria and Marfan's syndrome. Journal of Bone and Joint Surgery, 54B, 277.","journal-title":"Journal of Bone and Joint Surgery"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1042\/cs0430903","article-title":"Somatomedin (sulphation factor)-like activity of homocystine","volume":"43","author":"DEHNEL, J.M.; FRANCIS, M.J.O.","year":"1972","unstructured":"DEHNEL, J.M. & FRANCIS, M.J.O. (1972) Somatomedin (sulphation factor)-like activity of homocystine. Clinical Science, 43, 903.","journal-title":"Clinical Science"},{"key":"ref_3","article-title":"A Trail of Research in Sulphur Chemistry and Metabolism and Related Fields","author":"VIGNEAUD, Du; V.","year":"1952","unstructured":"Du VIGNEAUD, V. (1952) A Trail of Research in Sulphur Chemistry and Metabolism and Related Fields. Cornell University Press, Ithaca, New York."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2571","DOI":"10.1172\/JCI107449","article-title":"A collagen defect in homocystinuria","volume":"52","author":"KANG, A.H.; TRELSTAD, R.L.","year":"1973","unstructured":"KANG, A.H. & TRELSTAD, R.L. (1973) A collagen defect in homocystinuria. Journal of Clinical Investigation, 52, 2571.","journal-title":"Journal of Clinical Investigation"},{"key":"ref_5","article-title":"Heritable Disorders of Connective Tissue","author":"McKusIcK, V.A.","year":"1966","unstructured":"McKusIcK, V.A. (1966) Heritable Disorders of Connective Tissue, 3rd edn. C. V. Mosby Co. Ltd, St Louis.","edition":"3rd edn"},{"key":"ref_6","article-title":"Heritable Disorders of Connective Tissue","author":"McKusIcK, V.A.","year":"1972","unstructured":"McKusIcK, V.A. (1972) Heritable Disorders of Connective Tissue, 4th edn. C. V. Mosby Co. Ltd, St Louis.","edition":"4th edn"},{"key":"ref_7","first-page":"220","article-title":"Un cas de deformation cong6nitale des quatre membres plus prononcee aux extr6mit6s characterisee par I'allongement des os avec un certain degre d'amincissement. Bulletin mensuel de la Socift Medicale des HOpitaux de","volume":"13","author":"MARFAN, A.B.","year":"1896","unstructured":"MARFAN, A.B. (1896) Un cas de deformation cong6nitale des quatre membres plus prononcee aux extr6mit6s characterisee par I'allongement des os avec un certain degre d'amincissement. Bulletin mensuel de la Socift Medicale des HOpitaux de Paris, 13, 220.","journal-title":"Paris"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1056\/NEJM197205112861901","article-title":"A heritable disorder of connective tissue: hydroxylysine-deficient collagen disease","volume":"286","author":"PINNELL, S.R.; KRANE, S.M.; KENZORA, J.E.; GLIMCHER, M.J.","year":"1972","unstructured":"PINNELL, S.R., KRANE, S.M., KENZORA, J.E. & GLIMCHER, M.J. (1972) A heritable disorder of connective tissue: hydroxylysine-deficient collagen disease. New England Journal of Medicine, 286, 1013.","journal-title":"New England Journal of Medicine"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1073\/pnas.61.2.708","article-title":"The cross linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to a-amino adipic-delta-semialdehyde","volume":"61","author":"PINNELL, S.R.; MARTIN, G.R.","year":"1968","unstructured":"PINNELL, S.R., & MARTIN, G.R. (1968) The cross linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to a-amino adipic-delta-semialdehyde. Proceedings of the National Academy of Sciences of the United States of America, 61, 708.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/53\/622\/488\/50202494\/postgradmedj-53-488.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/53\/622\/488\/50202494\/postgradmedj-53-488.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T14:26:15Z","timestamp":1683210375000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/53\/622\/488\/7038426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,8,1]]},"references-count":9,"journal-issue":{"issue":"622","published-online":{"date-parts":[[1977,8,1]]},"published-print":{"date-parts":[[1977,8,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.53.622.488","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1977,8]]},"published":{"date-parts":[[1977,8,1]]}}}