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PubMed · 3426008

[Wolman's disease].

F Vargas Torcal·A Gómez García·J Cuevas·E P Young
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Abstract

We present two brothers with Wolman's disease under its child form. Adrenal calcification, a diagnostic suspicion sign, was present in the second brother only. Vacuolated cells in bone marrow and intestine villi shown in pathological study, and cholesterol crystals in Kupffer cells were determinative. Acid esterase (0.85 nmol/mg/m) in fibroblast culture in the second brother was pathognomonic (normal values: 30 nmol/mg/m). Enzymatic values in parents were normal. Evolution in both cases was to early death, five and eight months respectively. Enzymatic study in amniotic cells culture over fifteen week of a third bearing was normal.

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AcetylesteraseAmniocentesisCells, CulturedFemaleFibroblastsHumansInfantInfant, NewbornMalePedigreePregnancySyndromeXanthomatosisCase ReportsEnglish AbstractJournal Article

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F Vargas Torcal, A Gómez García, J Cuevas, E P Young. 1987. [Wolman's disease].. https://pubmed.ncbi.nlm.nih.gov/3426008/

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