A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00735404
Reference47 articles.
1. Beaudet AL, Manschreck AA (1982) Metabolism of sphingomyelin by intact cultured fibroblasts. Differentiation of Niemann-Pick disease type A and B.Biochem Biophys Res Commun 105: 14?19.
2. Cogan DG, Federman DD (1964) Retinal involvement with reticuloendotheliosis of unclassified type.Arch Ophthalmol 71: 489?491.
3. Cogan DG, Kuwabara T (1968) The sphingolipidosis and the eye.Arch Ophthalmol 79: 437?452.
4. Cogan DG, Chu FC, Barranger JA, Gregg RE (1983) Macular halo syndrome. Variant of Niemann-Pick disease.Arch Ophthalmol 101: 1698?1700.
5. Crocker AC (1961) The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.J Neurochem 7: 69?80.
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3. À propos d’un cas de maladie de Niemann-Pick type C : revue de la littérature;Médecine des Maladies Métaboliques;2014-12
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