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Article: Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families

TitleNiemann-Pick disease in the Chinese. A report of four cases in three Chinese families
Authors
Issue Date1989
Citation
Pathology, 1989, v. 21 n. 3, p. 223-226 How to Cite?
AbstractWe report the first four documented cases of childhood Niemann-Pick disease in Chinese. The clinical histories and biochemical, histopathological and ultrastructural findings are given. The four children born to consanguineous parents were from three families. Three of the four cases have features of Type A disease while the younger of the affected sisters, who had over 20% residual sphingomyelinase activity, was more typically of Type B disease. Post-mortem cultured fibroblasts, when compared to control fibroblasts, revealed early features of the disease at the ultrastructural level.
Persistent Identifierhttp://hdl.handle.net/10722/147844
ISSN
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorCollins, RJen_US
dc.contributor.authorLiu, WTen_US
dc.contributor.authorLam, STSen_US
dc.contributor.authorLin, HJen_US
dc.date.accessioned2012-05-29T06:09:31Z-
dc.date.available2012-05-29T06:09:31Z-
dc.date.issued1989en_US
dc.identifier.citationPathology, 1989, v. 21 n. 3, p. 223-226en_US
dc.identifier.issn0031-3205en_US
dc.identifier.urihttp://hdl.handle.net/10722/147844-
dc.description.abstractWe report the first four documented cases of childhood Niemann-Pick disease in Chinese. The clinical histories and biochemical, histopathological and ultrastructural findings are given. The four children born to consanguineous parents were from three families. Three of the four cases have features of Type A disease while the younger of the affected sisters, who had over 20% residual sphingomyelinase activity, was more typically of Type B disease. Post-mortem cultured fibroblasts, when compared to control fibroblasts, revealed early features of the disease at the ultrastructural level.en_US
dc.languageengen_US
dc.relation.ispartofPathologyen_US
dc.subject.meshCerebral Cortex - Ultrastructureen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChina - Ethnologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshLiver - Ultrastructureen_US
dc.subject.meshLymph Nodes - Ultrastructureen_US
dc.subject.meshMaleen_US
dc.subject.meshNiemann-Pick Diseases - Ethnology - Pathologyen_US
dc.subject.meshSpleen - Ultrastructureen_US
dc.titleNiemann-Pick disease in the Chinese. A report of four cases in three Chinese familiesen_US
dc.typeArticleen_US
dc.identifier.emailCollins, RJ:rcollins@hkucc.hku.hken_US
dc.identifier.authorityCollins, RJ=rp00251en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid2626275-
dc.identifier.scopuseid_2-s2.0-0024806996en_US
dc.identifier.volume21en_US
dc.identifier.issue3en_US
dc.identifier.spage223en_US
dc.identifier.epage226en_US
dc.identifier.isiWOS:A1989CM88500013-

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