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They have often been confirmed by biochemical and molecular analysis. On the other hand, seemingly disparate disorders have been shown to be pathogenetically related and to be variable expressions of common defects. Examples are the mucopolysaccharidoses and type II collagenopathies. Disease recognition through splitting and lumping has improved prevention and prognostication. It is the basic requirement for future therapeutic attempts on a pathogenetic or molecular level.<\/jats:p>","DOI":"10.1023\/a:1010354614926","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:41:19Z","timestamp":1040665279000},"page":"117-126","source":"Crossref","is-referenced-by-count":4,"title":["Changes in clinical practice with the unravelling of diseases: Connective\u2010tissue disorders"],"prefix":"10.1002","volume":"24","author":[{"given":"J.","family":"Spranger","sequence":"first","affiliation":[{"name":"Children's Hospital, University of Mainz  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.154.5.2108539"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470540"},{"key":"e_1_2_1_5_1","first-page":"317","volume-title":"Connective Tissue and its Heritable Disorders","author":"Byers PH","year":"1993"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810013391402"},{"key":"e_1_2_1_7_1","first-page":"23","article-title":"Die Achondrogenesis, ein einfach rezessives Erbmerkmal","volume":"1","author":"Grebe H","year":"1952","journal-title":"Folia hereditaria et pathologica (Pavia)"},{"key":"e_1_2_1_8_1","first-page":"25","article-title":"Einige seltene einfach rezessiv erbliche Gliedmassenmissbildungen","volume":"2","author":"Grebe H","year":"1953","journal-title":"Folia her\u2010editaria et pathologica (Pavia)"},{"key":"e_1_2_1_9_1","volume-title":"Human Mutation","author":"Grigelionin\u00e9 G","year":"1997"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005447232027"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284447"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.705"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200101183440304"},{"key":"e_1_2_1_14_1","volume-title":"Les Chondrodystrophies Genotypi ques","author":"Lamy M","year":"1961"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283684"},{"key":"e_1_2_1_16_1","first-page":"2081","volume-title":"Principles and Practice of Medical Genetics","author":"Leroy J","year":"1996"},{"key":"e_1_2_1_17_1","first-page":"521","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick VA","year":"1972"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.3.220"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610033351405"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-18"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/371252a0"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000157098"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959208"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-315"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-58"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.76.2.92"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1010354614926","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1010354614926","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T17:37:48Z","timestamp":1694799468000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1010354614926"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2001,4]]}},"alternative-id":["10.1023\/A:1010354614926"],"URL":"https:\/\/doi.org\/10.1023\/a:1010354614926","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,4]]}}}