Journal articles on the topic 'Lipogranulomatose de Farber'
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Consult the top 22 journal articles for your research on the topic 'Lipogranulomatose de Farber.'
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Sch�fer, A., K. Harzer, E. Kattner, H. J. Sch�fer, G. Stoltenburg, and H. Lietz. "Disseminierte Lipogranulomatose (M. Farber) mit Hydrops fetalis." Der Pathologe 17, no. 2 (March 1, 1996): 145–49. http://dx.doi.org/10.1007/s002920050148.
Full textKim, Y. J., S. J. Park, C. K. Park, S. H. Kim, and C. W. Lee. "A case of Farber lipogranulomatosis." Journal of Korean Medical Science 13, no. 1 (1998): 95. http://dx.doi.org/10.3346/jkms.1998.13.1.95.
Full textAlamri, Abdullah S., Daniah A. Alshowaeir, Ali A. AlFaiz, Fatimah H. Al Mousawi, Adel A. Mahmoud, and Aqeela H. Alhashim. "Optic Nerve Involvement in Farber Lipogranulomatosis." Journal of Neuro-Ophthalmology 39, no. 3 (September 2019): 391–93. http://dx.doi.org/10.1097/wno.0000000000000795.
Full textAmirhakimi, G. H., Parviz Haghighi, M. A. Ghalambor, and S. Honari. "Familial Lipogranulomatosis (Farber's disease)." Clinical Genetics 9, no. 6 (April 23, 2008): 625–30. http://dx.doi.org/10.1111/j.1399-0004.1976.tb01624.x.
Full textHodson, A., and Rosalind Coleman. "Absence seizures in Farber's lipogranulomatosis." Electroencephalography and Clinical Neurophysiology 61, no. 3 (September 1985): S186. http://dx.doi.org/10.1016/0013-4694(85)90713-8.
Full textEviatar, Lydia, Susan L. Sklower, Krystyna Wisniewski, Robert S. Feldman, and Aurora Gochoco. "Farber lipogranulomatosis: An unusual presentation in a black child." Pediatric Neurology 2, no. 6 (November 1986): 371–74. http://dx.doi.org/10.1016/0887-8994(86)90082-2.
Full textBurck, U., H. W. Moser, H. H. Goebel, R. Gr�ttner, and K. R. Held. "A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects." European Journal of Pediatrics 143, no. 3 (January 1985): 203–8. http://dx.doi.org/10.1007/bf00442139.
Full textKostik, Mikhail M., Irina A. Chikova, Vladislav V. Avramenko, Laly I. Vasyakina, Emmanuelle Le Trionnaire, Vyacheslav G. Chasnyk, and Thierry Levade. "Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis." Journal of Inherited Metabolic Disease 36, no. 6 (February 6, 2013): 1079–80. http://dx.doi.org/10.1007/s10545-012-9573-z.
Full textAsada, Akira, Shigeki Tatekawa, Takekazu Terai, Masanori Hayashi, Masato Hatano, Kazutoshi Ikeshita, and Mitsugu Fujimori. "The Anesthetic Implications of a Patient with Farber's Lipogranulomatosis." Anesthesiology 80, no. 1 (January 1, 1994): 206–8. http://dx.doi.org/10.1097/00000542-199401000-00028.
Full textCHANOKI, M., M. ISHII, K. FUKAI, H. KOBAYASHI, T. HAMADA, K. MURAKAMI, and A. TANAKA. "Farber's lipogranulomatosis in siblings: light and electron microscopic studies." British Journal of Dermatology 121, no. 6 (December 1989): 779–85. http://dx.doi.org/10.1111/j.1365-2133.1989.tb08222.x.
Full textFrohbergh, Michael, Xingxuan He, and Edward H. Schuchman. "The molecular medicine of acid ceramidase." Biological Chemistry 396, no. 6-7 (June 1, 2015): 759–65. http://dx.doi.org/10.1515/hsz-2014-0290.
Full textHadipour, F., Z. Hadipour, A. Tavassoli, and Y. Shafaghati. "Farber Disease or Lipogranulomatosis; 4 Case Reports of New Mutations in the Ceramidase Gene." Sarem Journal of Reproductive Medicine 2, no. 3 (July 1, 2017): 133–36. http://dx.doi.org/10.29252/sjrm.2.3.133.
Full textBashyam, M. D., A. K. Chaudhary, M. Kiran, V. Reddy, H. A. Nagarajaram, A. Dalal, L. Bashyam, et al. "Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation." Clinical Genetics 86, no. 6 (December 20, 2013): 530–38. http://dx.doi.org/10.1111/cge.12316.
Full textSchuchman, Edward H., Michael Frohbergh, Johana M. Guevara, Xingxuan He, Victor A. DeAngelis, and Calogera M. Simonaro. "Cartilage and bone disease in a mouse model of Farber lipogranulomatosis and response to treatment." Molecular Genetics and Metabolism 117, no. 2 (February 2016): S103. http://dx.doi.org/10.1016/j.ymgme.2015.12.431.
Full textDevi, Akela Radha Rama, Munimanda Gopikrishna, Raman Ratheesh, Gorinabele Savithri, Gowrishankar Swarnalata, and Murali Bashyam. "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family." Journal of Human Genetics 51, no. 9 (September 2006): 811–14. http://dx.doi.org/10.1007/s10038-006-0019-z.
Full textChoudhary, Nitin, Sonia Wadhawan, Rahil Singh, and Poonam Bhadoria. "Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy." Indian Journal of Anaesthesia 63, no. 11 (2019): 953. http://dx.doi.org/10.4103/ija.ija_418_19.
Full textNowaczyk, M. J. M., A. Feigenbaum, M. M. Silver, J. Callahan, A. Levin, and V. Jay. "Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case." Journal of Inherited Metabolic Disease 19, no. 5 (September 1996): 655–60. http://dx.doi.org/10.1007/bf01799842.
Full textKoga, Mayumi, Tokuhiro Ishihara, Fumiya Uchino, and Takehisa Fujiwaki. "An Autopsy Case of Farber's Lipogranulomatosis in a Japanese Boy with Gastrointestinal Involvement." Pathology International 42, no. 1 (January 1992): 42–48. http://dx.doi.org/10.1111/j.1440-1827.1992.tb01109.x.
Full textCvitanovic-Sojat, L., R. Gjergja Juraski, F. Sabourdy, A. H. Fensom, K. Fumic, E. Paschke, and T. Levade. "Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation." European Journal of Paediatric Neurology 15, no. 2 (March 2011): 171–73. http://dx.doi.org/10.1016/j.ejpn.2010.06.002.
Full textHe, Xingxuan, and Edward H. Schuchman. "Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase." Biomolecules 13, no. 11 (November 6, 2023): 1623. http://dx.doi.org/10.3390/biom13111623.
Full textBaz Bartels, M., S. Vlaho, V. Boda, J. Althaus, S. Geb, T. Klingebiel, L. Porto, and M. Kieslich. "Osseous Lesion at a 10 year old patient with Lipogranulomatosis (Farber Disease)." Neuropediatrics 39, no. 01 (February 2008). http://dx.doi.org/10.1055/s-2008-1079542.
Full textZhang, Hanmeng, Murtaza S. Nagree, Haoyuan Liu, Xiaoqing Pan, Jeffrey A. Medin, and Daniel M. Lipinski. "rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis." Gene Therapy, July 28, 2022. http://dx.doi.org/10.1038/s41434-022-00359-w.
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