{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:03:57Z","timestamp":1771603437412,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1985,11,5]],"date-time":"1985-11-05T00:00:00Z","timestamp":499996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1986,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three males (aged 10 years, 3 years 9 months and 2 years 8 months) with profound sphingomyelinase deficiency are presented. The sphingomyelin storage in the liver biopsies attained 30\u2010fold, 65\u2010fold and 16\u2010fold increases against controls, respectively. Levels of bis(monoacylglyceryl) phosphate were also increased. In two cases the bone marrow contained foam cells with liquid crystals of sphingomyelin. Besides the visceral involvement dominated by hepatosplenomegaly, all three cases showed discrete, so far stationary (8 years, 42 months and 28 months) neuropathic features and retinal lesions resembling the classical cherry\u2010red spot. Electrophysiological examinations showed a variable reduction of peripheral nerve conduction velocity and prolongation of the latencies of somatosensory, visual and auditory evoked potentials. Ultrastructural examination of skin nerves showed a slight storage, mainly in Schwann cells. In some myelinated fibres there were pseudomyelinic ovoids. The cases therefore displayed features of both A and B types of sphingomyelinase deficiency and should be conventionally classified as intermediate. However, the very low levels of<jats:italic>in vivo<\/jats:italic> sphingomyelin hydrolysis (not exceeding 6%, against 30\u00b110% in type B and 77\u00b15% in controls) were clearly within the range of type A values (5\u00b12%). Accordingly, we suggest that the cases may be biochemically classified as variants of type A disease.<\/jats:p>","DOI":"10.1007\/bf01800485","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:53:58Z","timestamp":1119372838000},"page":"357-366","source":"Crossref","is-referenced-by-count":16,"title":["A new variant of sphingomyelinase deficiency (Niemann\u2010Pick): visceromegaly, minimal neurological lesions and low<i>in vivo<\/i> degradation rate of sphingomyelin"],"prefix":"10.1002","volume":"9","author":[{"given":"M.","family":"Elleder","sequence":"first","affiliation":[{"name":"Hlava's 1st Institute of Pathology Faculty of Medicine  Studni\u010dkova 2 Prague 2 12800 Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Nevoral","sequence":"additional","affiliation":[{"name":"1st Paediatric Clinic Faculty of Paediatrics  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"\u0160pi\u010d\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"1st Paediatric Clinic Faculty of Paediatrics  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hyniov\u00e1","sequence":"additional","affiliation":[{"name":"2nd Paediatric Clinic Faculty of Paediatrics  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kraus","sequence":"additional","affiliation":[{"name":"Neurologic Clinic Faculty of Paediatrics  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kr\u00e1sn\u00fd","sequence":"additional","affiliation":[{"name":"Ophthalmologic Clinic Faculty of Paediatrics  Prague Czechoslovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"Vanier","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie Facult\u00e9 de M\u00e9dicine  Lyon\u2010Sud France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1985,11,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(82)80004-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.55.2.366"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1983.01040020700005"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1961.tb13499.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-195802000-00001"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01002962"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442673"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441649"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274972"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-1281(85)80054-4"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01003970"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00427406"},{"key":"e_1_2_1_14_1","first-page":"580","volume-title":"The Metabolic Basis of Inherited Disease","author":"Fredrickson D. 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