Abstract
The clinical diagnosis of Wolman's disease (acid esterase deficiency) can be confirmed by a histochemical staining method using blood films. Acid esterase activity is found normally in lymphocytes, but in Wolman's disease only a very low level of activity can be detected. An intermediate level of activity was demonstrated in heterozygotes. The method may also be applicable in the prenatal detection of the disease.
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- ABRAMOV A., SCHORR S., WOLMAN M. Generalized xanthomatosis with calcified adrenals. AMA J Dis Child. 1956 Mar;91(3):282–286. doi: 10.1001/archpedi.1956.02060020284010. [DOI] [PubMed] [Google Scholar]
- CROCKER A. C., VAWTER G. F., NEUHAUSER E. B., ROSOWSKY A. WOLMAN'S DISEASE: THREE NEW PATIENTS WITH A RECENTLY DESCRIBED LIPIDOSIS. Pediatrics. 1965 Apr;35:627–640. [PubMed] [Google Scholar]
- Konno T., Fujii M., Watanuki T., Koizumi K. Wolman's disease: the first case in Japan. Tohoku J Exp Med. 1966 Dec;90(4):375–389. doi: 10.1620/tjem.90.375. [DOI] [PubMed] [Google Scholar]
- Lake B. D., Patrick A. D. Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes. J Pediatr. 1970 Feb;76(2):262–266. doi: 10.1016/s0022-3476(70)80172-x. [DOI] [PubMed] [Google Scholar]
- Lake B. D. The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations. Histochem J. 1970 Sep;2(5):441–450. doi: 10.1007/BF01004725. [DOI] [PubMed] [Google Scholar]
- Orme R. L., Brimblecombe F. S. Wolman's disease--an unusual presentation. Proc R Soc Med. 1970 May;63(5):489–490. doi: 10.1177/003591577006300533. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Patrick A. D., Lake B. D. Deficiency of an acid lipase in Wolman's disease. Nature. 1969 Jun 14;222(5198):1067–1068. doi: 10.1038/2221067a0. [DOI] [PubMed] [Google Scholar]
- Schiff L., Schubert W. K., McAdams A. J., Spiegel E. L., O'Donnell J. F. Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects. Am J Med. 1968 Apr;44(4):538–546. doi: 10.1016/0002-9343(68)90054-5. [DOI] [PubMed] [Google Scholar]
- WOLMAN M., STERK V. V., GATT S., FRENKEL M. Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics. 1961 Nov;28:742–757. [PubMed] [Google Scholar]
- Young E. P., Patrick A. D. Deficiency of acid esterase activity in Wolman's disease. Arch Dis Child. 1970 Oct;45(243):664–668. doi: 10.1136/adc.45.243.664. [DOI] [PMC free article] [PubMed] [Google Scholar]