{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:45:23Z","timestamp":1790970323111,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1975,1,1]],"date-time":"1975-01-01T00:00:00Z","timestamp":157766400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1975]]},"DOI":"10.1007\/bf00430347","type":"journal-article","created":{"date-parts":[[2004,11,10]],"date-time":"2004-11-10T18:03:11Z","timestamp":1100109791000},"page":"111-120","source":"Crossref","is-referenced-by-count":52,"title":["Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes"],"prefix":"10.1007","volume":"29","author":[{"given":"J.","family":"K\ufffdbberling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Willms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kattermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Creutzfeldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"CR1","first-page":"535","volume":"3","author":"S. Aarseth","year":"1967","unstructured":"Aarseth, S.: Lipoatrophic diabetes. Diabetologia 3, 535 (1967)","journal-title":"Diabetologia"},{"key":"CR2","first-page":"494","volume":"84","author":"F. Bamatter","year":"1964","unstructured":"Bamatter, F.: Leprechaunisme. Rev. m\u00e9d. Suisse rom. 84, 494?502 (1964)","journal-title":"Rev. m\u00e9d. Suisse rom."},{"key":"CR3","first-page":"1072","volume":"26","author":"L. Barraquer","year":"1907","unstructured":"Barraquer, L.: Histoire clinique d'un cas d'atrophie celluloadipeux. Z. Neurol. 26, 1072 (1907)","journal-title":"Z. Neurol."},{"key":"CR4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1097\/00005053-194902000-00002","volume":"109","author":"L. Barraquer Ferr\u00e9","year":"1949","unstructured":"Barraquer Ferr\u00e9, L.: Pathogenesis of progressive cephalothoracic lipodystrophy. J. nerv. ment. Dis. 109, 113?121 (1949)","journal-title":"J. nerv. ment. Dis."},{"key":"CR5","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","volume":"14","author":"W. Berardinelli","year":"1968","unstructured":"Berardinelli, W.: An undiagnosed endocrinometabolic syndrome: Report of 2 cases. J. clin. Endocr. 14, 193?204 (1968)","journal-title":"J. clin. Endocr."},{"key":"CR6","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1001\/archderm.1965.01600100036011","volume":"91","author":"M. M. Brubaker","year":"1965","unstructured":"Brubaker, M. M., Levan, N. E., Collipp, P. J.: Acanthosis nigricans and congenital total lipodystrophy. Arch. Derm. 91, 320?325 (1965)","journal-title":"Arch. Derm."},{"key":"CR7","doi-asserted-by":"crossref","first-page":"501","DOI":"10.7326\/0003-4819-69-3-501","volume":"69","author":"J. D. Brunzell","year":"1968","unstructured":"Brunzell, J. D., Shankle, S. W., Bethune, J. E.: Congenital generalized lipodystrophy accompanied by cystic angiomatosis. Ann. intern. Med. 69, 501?516 (1968)","journal-title":"Ann. intern. Med."},{"key":"CR8","volume-title":"Diabetes","author":"J. W. Craig","year":"1960","unstructured":"Craig, J. W., Miller, M.: Lipoatrophic diabetes. In: Diabetes (ed. R. H. Williams) New York: Hoeber 1960"},{"key":"CR9","first-page":"33","volume":"49","author":"M. G. Dunnigan","year":"1974","unstructured":"Dunnigan, M. G., Cochrane, M. A., Kelly, A., Scott, J. W.: Familial lipoatrophic diabetes with dominant transmission. Quart. J. Med. 49, 33?48 (1974)","journal-title":"Quart. J. Med."},{"key":"CR10","first-page":"33","volume":"112","author":"A. S. Fosbrooke","year":"1969","unstructured":"Fosbrooke, A. S., Segall, M. M.: Observations on fat and carbohydrate metabolism in generalized lipodystrophy. Biochem. J. 112, 33?34 (1969)","journal-title":"Biochem. J."},{"key":"CR11","doi-asserted-by":"crossref","unstructured":"Fowler, P. B. S., D. M.: Lipodystrophia progressiva and temporary hydronephrosis. Brit. med. J. 1955 I, 1249?1251","DOI":"10.1136\/bmj.1.4924.1249"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1161\/01.CIR.31.3.321","volume":"31","author":"D. S. Frederickson","year":"1965","unstructured":"Frederickson, D. S., Lees, R. S.: A system for phenotyping hyperlipoproteinemia. Circulation 31, 321 (1965)","journal-title":"Circulation"},{"key":"CR13","first-page":"605","volume":"96","author":"S. S. Gellis","year":"1958","unstructured":"Gellis, S. S., Green, S., Walker, D.: Chronic renal disease in children with lipodystrophy. Amer. J. Dis. Child. 96, 605?606 (1958)","journal-title":"Amer. J. Dis. Child."},{"key":"CR14","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1001\/archderm.1971.04000230093017","volume":"104","author":"H. Gordon","year":"1971","unstructured":"Gordon, H., Pimstone, B. L., Leary, M., Gordon W.: Congenital generalized lipodystrophy with abnormal growth hormone homeostasis. Arch. Derm. 104, 551?559 (1971)","journal-title":"Arch. Derm."},{"key":"CR15","first-page":"1032","volume":"76","author":"M. Hamza","year":"1970","unstructured":"Hamza, M., Levy, M., Broyer, M., Habib, R.: Deux cas de glom\u00e9rulo-n\u00e9phrite membrano-prolif\u00e9rative avec lipodystrophie partielle de type facio-tronculaire. J. Urol. N\u00e9phrol. 76, 1032?1042 (1970)","journal-title":"J. Urol. N\u00e9phrol."},{"key":"CR16","first-page":"1505","volume":"15","author":"B. T. Horton","year":"1932","unstructured":"Horton, B. T., Emmett, J. L.: Atypical syndromes in uremia; lipodystrophy involving lower extremities. Med. Clin. N. Amer. 15, 1505?1512 (1932)","journal-title":"Med. Clin. N. Amer."},{"key":"CR17","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1001\/archpedi.1948.02030020217006","volume":"75","author":"W. W. Igersheimer","year":"1948","unstructured":"Igersheimer, W. W.: Progressive lipodystrophy. Amer. J. Dis. Childh. 75, 206?213 (1948)","journal-title":"Amer. J. Dis. Childh."},{"key":"CR18","doi-asserted-by":"crossref","first-page":"708","DOI":"10.2337\/diab.16.10.708","volume":"16","author":"J. W. Jolliff","year":"1967","unstructured":"Jolliff, J. W., Craig, J. W.: Lipoatrophic diabetes and mental illness in three siblings. Diabetes 16, 708?714 (1967)","journal-title":"Diabetes"},{"key":"CR19","first-page":"749","volume":"12","author":"M. Jeune","year":"1965","unstructured":"Jeune, M., Freycon, M. Th., Hermier, M., Lamit, J., Abbound, N., Brunat, N.: Les n\u00e9phropathies dans la lipodystrophie progressive ou maladie de Barraquer-Simons. Ann. P\u00e9diat. 12, 749?758 (1965)","journal-title":"Ann. P\u00e9diat"},{"key":"CR20","unstructured":"K\u00f6bberling, J., Willms, B., Kattermann, R., Creutzfeldt, W.: Diabetes mellitus und famili\u00e4re, partielle Lipoatrophie. Diabetes mellitus, 2. Intern. Donau-Symposium. Verlag der Wiener Medizinischen Akademie, 427?430 (1971)"},{"key":"CR21","first-page":"14","volume":"24","author":"H. G. Langsch","year":"1969","unstructured":"Langsch, H. G., Michaelis, D., Fischer, U.: Ungew\u00f6hnliches Krankheitsbild einer Patientin mit insulinresistentem Diabetes mellitus und hochgradige Lipoatrophie. Dtsch. Gesundh.-Wes. 24, 14?18 (1969)","journal-title":"Dtsch. Gesundh.-Wes."},{"key":"CR22","doi-asserted-by":"crossref","unstructured":"Lawrence, R. D.: Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances. Lancet 1946 I, 724?731, 773?775","DOI":"10.1016\/S0140-6736(46)90528-4"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/j.0954-6820.1974.tb08177.x","volume":"195","author":"S. Ljunghall","year":"1974","unstructured":"Ljunghall, S., Fjellstr\u00f6m, K. E., Wibell, L.: Partial lipodystrophy and chronic hypocomplementemic glomerulonephritis. Acta med. scand. 195, 493?497 (1974)","journal-title":"Acta med. scand."},{"key":"CR24","first-page":"31","volume":"14","author":"R. Miyahara","year":"1965","unstructured":"Miyahara, R., Tsutamura, C., Sugihara, M.: A case of generalized lipodystrophy. Hiroshima J. med. Sci. 14, 31?39 (1965)","journal-title":"Hiroshima J. med. Sci."},{"key":"CR25","first-page":"533","volume":"21","author":"F. L. Ozer","year":"1973","unstructured":"Ozer, F. L., Lichtenstein, J. R., Kwiterovich, P. O., McKusik, V. A.: A ?new? genetic variety of lipodystrophy. Clin. Res. 21, 533 (1973)","journal-title":"Clin. Res."},{"key":"CR26","first-page":"1387","volume":"18","author":"R. Pachioli","year":"1966","unstructured":"Pachioli, R., Olivi, O., Genova, R.: La lipodistrofia, un quadro di paniperpituitarismo anteriore nell' infanzia. Minerva pediat. 18, 1387?1394 (1966)","journal-title":"Minerva pediat."},{"key":"CR27","doi-asserted-by":"crossref","unstructured":"Peters, D. K., Charlesworth, J. A., Sissons, J. G. P., Williams, D. G., Boulton-Jones, J. M., Evans, D. J.: Mesangiocapillary nephritis, partial lipodystrophy, and hypocomplementemi. Lancet 1973 II, 535?538","DOI":"10.1016\/S0140-6736(73)92351-9"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"963","DOI":"10.7326\/0003-4819-73-6-963","volume":"73","author":"R. L. Piscatelli","year":"1970","unstructured":"Piscatelli, R. L., Vieweg, W. V. R., Havel, R. J.: Metabolic studies in three patients. Ann. intern. Med. 73, 963?970 (1970)","journal-title":"Ann. intern. Med."},{"key":"CR29","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1001\/archderm.1965.01600100042012","volume":"91","author":"W. B. Reed","year":"1965","unstructured":"Reed, W. B., Dexter, R., Corley, C., Fish, C.: Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndrome. Arch. Derm. 91, 326?334 (1965)","journal-title":"Arch. Derm."},{"key":"CR30","first-page":"465","volume":"48","author":"W. B. Reed","year":"1968","unstructured":"Reed, W. B., Ragsdale, W., Curtis, A. C., Richards, H. J.: Acanthosis nigricans in association with various genodermatoses. With emphasis on lipodystrophic diabetes and Prader-Willi syndrome. Acta derm.-venereol. (Stockh.) 48, 465?473 (1968)","journal-title":"Acta derm.-venereol. (Stockh.)"},{"key":"CR31","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/0002-9343(60)90207-2","volume":"28","author":"R. Schwartz","year":"1960","unstructured":"Schwartz, R., Schafer, I. A., Renold, A. E.: Generalized lipoatrophy, hepatic cirrhosis, disturbed carbohydrate metabolism and accelerated growth (lipoatrophic diabetes). Amer. J. Med. 28, 973?985 (1960)","journal-title":"Amer. J. Med."},{"key":"CR32","unstructured":"Reichel, W., K\u00f6bberling, J., Fischbach, H., Scheler, F.: Lipodystrophy and membranoprolipherative glomerulonephritis. Discordant occurrence in identical twins. In preparation"},{"key":"CR33","first-page":"555","volume":"48","author":"M. Seip","year":"1959","unstructured":"Seip, M.: Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta paediat. scand. 48, 555?574 (1959)","journal-title":"Acta paediat. scand."},{"key":"CR34","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/978-3-642-65213-4_2","volume-title":"Ergebnisse der inneren Medizin und Kinderheilkunde","author":"M. Seip","year":"1971","unstructured":"Seip, M.: Generalized lipodystrophy. In: Ergebnisse der inneren Medizin und Kinderheilkunde (eds. P. Frick et al.), Vol. 31, pp. 59?95. Berlin-Heidelberg-New York: Springer 1971"},{"key":"CR35","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/BF02867054","volume":"5","author":"A. Simons","year":"1911","unstructured":"Simons, A.: Eine seltene Trophoneurose: ?Lipodystrophia progressive?. Z. ges. Neurol. Psychiat. 5, 29?38 (1911)","journal-title":"Z. ges. Neurol. Psychiat."},{"key":"CR36","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1001\/archderm.1961.01580130037005","volume":"84","author":"W. B. Taylor","year":"1961","unstructured":"Taylor, W. B., Honeycutt, W. M.: Progressive lipodystrophy and lipoatrophic diabetes. Arch. Derm. 84, 31?36 (1961)","journal-title":"Arch. Derm."},{"key":"CR37","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1507\/endocrj1954.12.197","volume":"12","author":"T. Torikai","year":"1965","unstructured":"Torikai, T., Fukuchi, S., Sasaki, C., Ishigaki, J., Isawa, K., Suzuki, A., Namiki, T., Hashimoto, N., Hashimoto, S.: Two sibling cases with lipoatrophic diabetes. Endocr. jap. 12, 197?208 (1965)","journal-title":"Endocr. jap."},{"key":"CR38","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1177\/003591577206500708","volume":"65","author":"D. G. Williams","year":"1972","unstructured":"Williams, D. G., Scopes, J. W., Peters, D. K.: Hypocomplemetaemic membranoproliferative glomerulonephritis and nephrotic syndrome associated with partial lipodystrophy of the face and trunk. Proc. roy. Soc. Med. 65, 591 (1972)","journal-title":"Proc. roy. Soc. Med."}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00430347.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00430347\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00430347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T23:59:04Z","timestamp":1585958344000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00430347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1975]]}},"alternative-id":["BF00430347"],"URL":"https:\/\/doi.org\/10.1007\/bf00430347","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1975]]}}}