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La malattia di Niemann-Pick Descrizione di un caso

Published online by Cambridge University Press:  01 August 2014

Antonio Gullo Assistente
Antonio Gullo Assistente*
Affiliation:
Istituto di Puericoltura dell'Università di Palermo, Direttore: Prof. Ignazio Gatto

Summary

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A case of Niemann-Pick disease is reported. This is the fourth described in Italian literature and diagnosed during life. In this case hereditary transmission in homozigous individual is admitted; it is uncertain whether the character behaves as semidominant or recessive.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 10 , Issue 2 , April 1961 , pp. 245 - 259
Copyright
Copyright © The International Society for Twin Studies 1961

References

Bibliografia

Abt, A. F., Bloom, W.: Essential lipoid histiocytosis (type Niemann-Pick). J.A.M.A., 90, 2076 (1928).Google Scholar
Barclay, M., Calathes, N., Dargeon, H. W.: Plasma lipoprotein in the lipoidoses. A.M.A.J. Dis. Child., part II, 97, 719 (1959).Google Scholar
Baty, J. M.: Lipoid histiocytosis (Niemann's disease). Am. J. Dis. Child., 39, 573 (1930).Google Scholar
Baumann, T., Klenk, E., Scheidegger, S.: Niemann-Pick'sche Krankeit. Ergebn. allg. Path. u. path. Anat., 30, 183 (1936).Google Scholar
Berman, S. L.: Lipoid histiocytosis (Niemann-Pick disease). Am. J. Dis. Child., 36, 102 (1928).Google Scholar
Bloom, W.: Splenomegaly (type Gaucher) and lipoid histiocytosis (type Niemann). Am. J. Path., 1, 595 (1925).Google Scholar
Bloom, W.: The histogenesis of essential lipoid histiocytosis (Niemann-Pick disease). Arch. Path., 6, 827, 1928.Google Scholar
Brahn, B., Pick, L.: Chemical analysis of the spleen in lipoid cell splenohepathomegaly (Niemann-Pick). Klin. Wchnschr., 6, 2337 (1927).Google Scholar
Bulgarelli, R., Bruni, R.: Ricerche in un interessante caso di malattia di Tay Sachs. Ann. Isnardi di auxologia norm, e patologica, 6, 155 (1959).Google Scholar
Craig, J. M.: Hale colloidal-iron procedure in certain metabolic storage diseases. Lab. Invest., 5, 62 (1956).Google Scholar
Crocco, G.: Su di un caso di malattia di Niemann-Pick. Osservazioni su talune particolarità di morfologia midollare. La Pediatria, 59, 710 (1951).Google Scholar
Crocker, A. C., Farber, S.: Niemann-Pick disease: a review of eighteen patients. Medicine, 37, 1 (1958).Google Scholar
Crosca, A., Recupero, C., Blandino, G.: Il quadro emato-midollare, radiologico ed oculare nella lipoidosi fosfatidica di Niemann-Pick. La Pediatria, 64, 797 (1956).Google Scholar
Denys, P., Tiierasse, Y., Malbrain, H., Corbeel, L.: Contribution à l'étude de la lipidose de type Niemann-Pick. Acta Paed. Belg., 9, 233 (1955).Google Scholar
Dina, M. A.: La malattia di Niemann-Pick. Quadro endocrino e interferenze con le splenoepatopatie fibrosclerotiche. La Clin. Ped., 32, 329 (1950).Google Scholar
Fischer, C. F.: Niemann-Pick's disease with leukemoid blood reaction. Arch. Pediat., 49, 574, (1932).Google Scholar
Forsythe, W. I., Mc Keown, E. F., Neill, D. W.: Three cases of Niemann-Pick's disease in children. Arch. Dis. Child., 34, 406 (1959).Google Scholar
Fleudenberg, E.: Klinische Beobachtungen und Untersuchungen an einem Zwillingspaar mit Niemann-Pickscher Krankheit. Zschr. Kinderh., 59, 313 (1938).Google Scholar
Hanhart, E.: Die Schweizerfälle von Splenohepatomegalie (Niemann-Pick). Ac. Gen. Med. Gem., 5, 294 (1956).Google Scholar
Hastrup, B., Videbaek, A.: Acid phosphatase in Niemann-Pick's disease and therapeutic experiment with cortisone. Ac. Med. Scand., 149, 287 (1954).Google Scholar
Hess, J.: Niemann Pick's disease. Am. J. Dis. Child., 36, 1068 (1928).Google Scholar
Pansky, B., Lee, R.: Niemann-Pick disease in a boy of 16 months. J. of Ped., 51, 290 (1957).Google Scholar
Pfändler, U.: La manifestation hétérozygote et homozygote de certains trubles du métabolisme (Porphyrie chronique, cystinose, Maladie de Niemann-Pick). Jour. Génétique Humaine., 5, 248 (1956).Google Scholar
Pfändler, U.: La maladie de Niemann-Pick dans le cadre des lipoïdoses. Schweiz. Med. Wschr., 76, 1128 (1946).Google Scholar
Poncher, H. G.: Lipoid histiocytosis (Niemann-Pick's disease). Am. J. Dis. Child., 42, 77 (1931).Google Scholar
Rintelen, F.: Die Histopathologie der Augenhintergrundsveranderungen bei Niemann-Pickscher Lipoidoses. Arch. Augenh., 109, 332 (1936).Google Scholar
Salomone, P.: Le sindromi di Niemann-Pick e di Tay Sachs. Minerva Pediatrica, 6, 90 (1954).Google Scholar
Sbraccia, C., Varcasia, E.: Malattia di Niemann-Pick. Descrizione di un caso. Minerva Pediatrica, 11, 87 (1959).Google Scholar
Schaferstein, S. S.: Die Pick-Niemann'sche Krankheit. Acta Paediat., 10, 523, 1931.Google Scholar
Sobotka, H., Epstein, E. Z., Lichtenstein, L.: The distribution of lipoid in a case of Niemann-Pick's disease associated with amaurotic family idiocy. Arch. Path., 10, 677 (1930).Google Scholar
Thannhauser, S. J.: Lipidoses. Oxford University Press. New York, 1950.Google Scholar
Tingey, A.: The results of glycolipid analysis in certain types of lipidosis and leucodystrophy. J. of Neurochem., 3, 230 (1959).Google Scholar
Videbaek, A.: Niemann-Pick's disease. Acute and chronic type? Acta Paediat., 37, 95 (1949).Google Scholar
Videbaek, A.: Another case of Niemann-Pick's disease observed in Denmark. Acta Paediat., 41, 355 (1952).Google Scholar
Winter, S. J.: Lipoid Histiocytosis (Niemann-Pick type). Am. J. Dis. Child., 43, 1150 (1932).Google Scholar