{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T04:54:56Z","timestamp":1761540896756},"reference-count":6,"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 various disorders caused by heritable defects in complex carbohydrate catabolism comprise two groups: (A) The mucopolysaccharidoses, six main and several subtypes are described. (B) The mucolipidoses (oligosaccharidoses), at least nine types being recognized. Whilst most of these are now well defined by clinical and biochemical studies, much of the sequence of events from the intrinsic metabolic error to their clinical features remains obscure. Most are transmitted as autosomal recessive conditions, a mode of inheritance often, as with these disorders, associated with enzymic deficiencies. All patients display the Hurler phenotype, but this, as also the characteristic bone changes, varies widely in severity both within and between the specified types of disease. The radiological abnormalities\u2014dysostosis multiplex\u2014indicate the broad disease complex and are rarely type-specific; diagnostic precision needing knowledge of both clinical and biochemical examinations. In several types mental development is normal and bone changes are mild, so permitting confusion with other forms of bone dysplasia or disease.<\/jats:p>","DOI":"10.1136\/pgmj.53.622.441","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T20:39:26Z","timestamp":1230583166000},"page":"441-449","source":"Crossref","is-referenced-by-count":6,"title":["Catabolic disorders of complex carbohydrates"],"prefix":"10.1093","volume":"53","author":[{"given":"J W","family":"Spranger","sequence":"first","affiliation":[{"name":"Children's Hospital, Johannes Gutenberg University , Mainz"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1977,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","DOI":"10.1016\/0006-291X(77)90363-1","article-title":"Mucolipidosis I: Increased sialic acid content and deficiency of an a-Nacetylneuraminidase in cultured fibroblasts","author":"CANTZ, M.; GEHLER, J.; SPRANGER, J.","year":"1977","unstructured":"CANTZ, M., GEHLER, J. & SPRANGER, J. (1977) Mucolipidosis I: Increased sialic acid content and deficiency of an a-Nacetylneuraminidase in cultured fibroblasts. Biochemical and Biophysical Research Communications (in press).","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"ref_2","article-title":"Les oligosaccharidoses","author":"MAROTEAUX, P.; HUMBEL, R.","year":"1976","unstructured":"MAROTEAUX, P. & HUMBEL, R. (1976) Les oligosaccharidoses."},{"key":"ref_3","first-page":"756","article-title":"Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase","volume":"61","year":"1974","unstructured":"MATALON, R., ARBOGAST, B., JUSTICE, P., BRANDT, 1. & DORFMAN, A. (1974) Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochemical and Biophysical Research Communications, 61, 756.","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"ref_4","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, St Louis.","edition":"4th edn"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0022-3476(73)80162-3","article-title":"3-glucuronidase deficiency: a report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis","volume":"82","author":"SLY, W.S.; QUINTON, B.A.; McALISTER, W.H.; RIMOIN, D.","year":"1973","unstructured":"SLY, W.S., QUINTON, B.A., McALISTER, W.H. & RIMOIN, D. (1973) 3-glucuronidase deficiency: a report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis. Journal of Pediatrics, 82, 249.","journal-title":"Journal of Pediatrics"},{"key":"ref_6","article-title":"Bone Dysplasias. An Atlas of Constitutional Disorders of Skeletal Development","year":"1974","unstructured":"SPRANGER, J., LANGER, 1.O. & WIEDEMANN, H-R. (1974) Bone Dysplasias. An Atlas of Constitutional Disorders of Skeletal Development. Fischer, Stuttgart & W.B. Saunders Co., Philadelphia."}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/53\/622\/441\/50202508\/postgradmedj-53-441.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/53\/622\/441\/50202508\/postgradmedj-53-441.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T14:24:44Z","timestamp":1683210284000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/53\/622\/441\/7038473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,8,1]]},"references-count":6,"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.53.622.441","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]]}}}