{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T16:33:47Z","timestamp":1714754027446},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1976,1,1]],"date-time":"1976-01-01T00:00:00Z","timestamp":189302400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[1976]]},"DOI":"10.1007\/bf00463738","type":"journal-article","created":{"date-parts":[[2004,11,14]],"date-time":"2004-11-14T13:06:31Z","timestamp":1100437591000},"page":"201-206","source":"Crossref","is-referenced-by-count":22,"title":["Prenatal diagnosis of mucolipidosis II (I-cell disease)"],"prefix":"10.1007","volume":"122","author":[{"given":"J.","family":"Gehler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cantz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Stoeckenius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0022-3476(75)80583-X","volume":"87","author":"P. Aula","year":"1975","unstructured":"Aula, P., Rapola, J., Autio, S., Raivio, K., Karjalainen, O.: Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis II). J. Pediat. 87, 221 (1975)","journal-title":"J. Pediat."},{"key":"CR2","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1016\/S0022-3476(73)80377-4","volume":"83","author":"N. G. Beratis","year":"1973","unstructured":"Beratis, N. G., Aro, A. M., Hirschorn, K.: Metachromatic leukodystrophy: Detection in serum. J. Pediat. 83, 824 (1973)","journal-title":"J. Pediat."},{"key":"CR3","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/0002-9378(74)90096-9","volume":"119","author":"J. Butterworth","year":"1974","unstructured":"Butterworth, J., Broadhead, D. M., Sutherland, G. R., Bain, A. D.: Lysosomal enzymes of amniotic fluid in relation to gestational age. Amer. J. Obstet. Gynec. 119, 821 (1974)","journal-title":"Amer. J. Obstet. Gynec."},{"key":"CR4","series-title":"Complex carbohydrates, Part B","first-page":"884","volume-title":"Methods in enzymology","author":"M. Cantz","year":"1972","unstructured":"Cantz, M., Kresse, H., Barton, R. W., Neufeld, E. F.: Corrective factors for inborn errors of mucopolysaccharide metabolism. In: Colowick, S. P., Kaplan, N. O., Methods in enzymology (ed. V. Ginsburg), Vol. 28, Complex carbohydrates, Part B, pp. 884?897. New York-London: Academic Press 1972"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"5951","DOI":"10.1016\/S0021-9258(19)44850-3","volume":"247","author":"G. Dawson","year":"1972","unstructured":"Dawson, G., Matalon, R., Dorfman, A.: Glycosphingolipids in cultured human skin fibroblasts. II. Characterisation and metabolism in fibroblasts from patients with inborn errors of glycosphingolipid and mucopolysaccharide metabolism. J. biol. Chem. 247, 5951 (1972)","journal-title":"J. biol. Chem."},{"key":"CR6","first-page":"149","volume":"23","author":"J. Gehler","year":"1974","unstructured":"Gehler, J., Cantz, M., Tolksdorf, M., Spranger, J., Gilbert, E., Drube, H.: Mucopolysac-charidosis VII: ?-glucuronidase deficiency. Humangenetik 23, 149 (1974)","journal-title":"Humangenetik"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00569920","volume":"114","author":"E. F. Gilbert","year":"1973","unstructured":"Gilbert, E. F., Dawson, G., zu Rhein, G. M., Opitz, J. M., Spranger, J. W.: I-cell disease, mucolipidosis II. Z. Kinderheilk. 114, 259 (1973)","journal-title":"Z. Kinderheilk."},{"key":"CR8","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1016\/0006-291X(72)90310-5","volume":"49","author":"S. Hickmann","year":"1972","unstructured":"Hickmann, S., Neufeld, E. F.: A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes. Biochem. biophys. Res. Commun. 49, 992 (1972)","journal-title":"Biochem. biophys. Res. Commun."},{"key":"CR9","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/0009-8981(73)90092-2","volume":"44","author":"F. Huijing","year":"1973","unstructured":"Huijing, F., Warren, R. J., McLeod, A. G. W.: Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease). Clin. chim. Acta 44, 453 (1973)","journal-title":"Clin. chim. Acta"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1126\/science.157.3790.804","volume":"157","author":"J. G. Leroy","year":"1967","unstructured":"Leroy, J. G., De Mars, R. J.: Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 157, 804 (1967)","journal-title":"Science"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0022-3476(71)80142-7","volume":"79","author":"J. G. Leroy","year":"1971","unstructured":"Leroy, J. G., Spranger, J. W., Feingold, M., Opitz, J. M., Crocker, A. C.: I-cell disease: A clinical picture. J. Pediat. 79, 360 (1971)","journal-title":"J. Pediat."},{"key":"CR12","doi-asserted-by":"crossref","unstructured":"Lightbody, J., Wiesmann, U., Hadorn, B., Herschkowitz, N.: I-cell disease: Multiple lysosomal enzyme defect. Lancet 1971 I, 451","DOI":"10.1016\/S0140-6736(71)92435-4"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","volume":"193","author":"O. Lowry","year":"1951","unstructured":"Lowry, O., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. biol. Chem. 193, 265 (1951)","journal-title":"J. biol. Chem."},{"key":"CR14","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/BF00273633","volume":"30","author":"I. Matsuda","year":"1975","unstructured":"Matsuda, I., Arashima, S., Mitsuyama, T., Oka, Y., Ikenchi, T., Kaneko, Y., Ishikawa, M.: Prenatal diagnosis of I-cell disease. Humangenetik 30, 69 (1975)","journal-title":"Humangenetik"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S0022-3476(71)80143-9","volume":"79","author":"M. Tondeur","year":"1971","unstructured":"Tondeur, M., Vamos-Hurwitz, E., Mockel-Pohl, S., Dereuve, J. P., Cremer, N., Loeb, H.: Clinical, biochemical and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. J. Pediat. 79, 366 (1971)","journal-title":"J. Pediat."},{"key":"CR16","first-page":"343\/115","volume":"7","author":"R. J. Warren","year":"1973","unstructured":"Warren, R. J., Condrou, C. J., Hollister, D., Huijing, F., Neufeld, E. F., Hall, C. W., McLeod, A. G. W., Lorincz, A. E.: Antenatal diagnosis of mucolipidosis II (I-cell disease). Pediat. Res. 7, 343\/115 (1973)","journal-title":"Pediat. Res."},{"key":"CR17","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1203\/00006450-197411000-00002","volume":"8","author":"U. N. Wiesmann","year":"1974","unstructured":"Wiesmann, U. N., Herschkowitz, N. N.: Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts. Pediat. Res. 8, 865 (1974)","journal-title":"Pediat. Res."},{"key":"CR18","first-page":"1090","volume":"285","author":"U. N. Wiesmann","year":"1971","unstructured":"Wiesmann, U. N., Vasella, F., Herschkowitz, N. N.: I-cell disease: Leakage of lysosomal enzymes into extracellular fluids. New Engl. J. Med. 285, 1090 (1971)","journal-title":"New Engl. J. Med."}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00463738.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00463738\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00463738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T11:50:53Z","timestamp":1624881053000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00463738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1976]]}},"alternative-id":["BF00463738"],"URL":"https:\/\/doi.org\/10.1007\/bf00463738","relation":{},"ISSN":["0340-6997","1432-1076"],"issn-type":[{"value":"0340-6997","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976]]}}}