Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

Schneider, Edward L.; Ellis, William G.; Brady, Roscoe O.; McCulloch, J. R.; Epstein, Charles J.

doi:10.1203/00006450-197209000-00005

Cited by 25 publications

(1 citation statement)

References 17 publications

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“…Biochemical studies of foetal NPD type A (Schneider et al 1972, Klibansky et al 1979, Wenger et al 1978 and type B (Wenger et al 1981) have so far been conducted on 19-21 gestational week-old foetuses, and we report here on 3 additional cases with NPD type A at the same stage of development. The findings of all reports, including the present one, are in close agreement.…”

Section: Discussionmentioning

confidence: 61%

Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development

Vanier

Boué

1985

Clinical Genetics

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First‐trimester prenatal diagnosis of Niemann‐Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4‐fold sphingomyelin storage had already taken place in the liver (2.5‐fold in the spleen) of this 12‐gestational week foetus.

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Section: Discussionmentioning

confidence: 61%