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Artykuły w czasopismach na temat „Lipogranulomatose de Farber”

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Data publikacji: 15 lutego 2024

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1

Sch�fer, A., K. Harzer, E. Kattner, H. J. Sch�fer, G. Stoltenburg i H. Lietz. "Disseminierte Lipogranulomatose (M. Farber) mit Hydrops fetalis". Der Pathologe 17, nr 2 (1.03.1996): 145–49. http://dx.doi.org/10.1007/s002920050148.

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2

Kim, Y. J., S. J. Park, C. K. Park, S. H. Kim i C. W. Lee. "A case of Farber lipogranulomatosis". Journal of Korean Medical Science 13, nr 1 (1998): 95. http://dx.doi.org/10.3346/jkms.1998.13.1.95.

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3

Alamri, Abdullah S., Daniah A. Alshowaeir, Ali A. AlFaiz, Fatimah H. Al Mousawi, Adel A. Mahmoud i Aqeela H. Alhashim. "Optic Nerve Involvement in Farber Lipogranulomatosis". Journal of Neuro-Ophthalmology 39, nr 3 (wrzesień 2019): 391–93. http://dx.doi.org/10.1097/wno.0000000000000795.

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4

Amirhakimi, G. H., Parviz Haghighi, M. A. Ghalambor i S. Honari. "Familial Lipogranulomatosis (Farber's disease)". Clinical Genetics 9, nr 6 (23.04.2008): 625–30. http://dx.doi.org/10.1111/j.1399-0004.1976.tb01624.x.

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5

Hodson, A., i Rosalind Coleman. "Absence seizures in Farber's lipogranulomatosis". Electroencephalography and Clinical Neurophysiology 61, nr 3 (wrzesień 1985): S186. http://dx.doi.org/10.1016/0013-4694(85)90713-8.

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6

Eviatar, Lydia, Susan L. Sklower, Krystyna Wisniewski, Robert S. Feldman i Aurora Gochoco. "Farber lipogranulomatosis: An unusual presentation in a black child". Pediatric Neurology 2, nr 6 (listopad 1986): 371–74. http://dx.doi.org/10.1016/0887-8994(86)90082-2.

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7

Burck, U., H. W. Moser, H. H. Goebel, R. Gr�ttner i K. R. Held. "A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects". European Journal of Pediatrics 143, nr 3 (styczeń 1985): 203–8. http://dx.doi.org/10.1007/bf00442139.

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8

Kostik, Mikhail M., Irina A. Chikova, Vladislav V. Avramenko, Laly I. Vasyakina, Emmanuelle Le Trionnaire, Vyacheslav G. Chasnyk i Thierry Levade. "Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis". Journal of Inherited Metabolic Disease 36, nr 6 (6.02.2013): 1079–80. http://dx.doi.org/10.1007/s10545-012-9573-z.

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9

Asada, Akira, Shigeki Tatekawa, Takekazu Terai, Masanori Hayashi, Masato Hatano, Kazutoshi Ikeshita i Mitsugu Fujimori. "The Anesthetic Implications of a Patient with Farber's Lipogranulomatosis". Anesthesiology 80, nr 1 (1.01.1994): 206–8. http://dx.doi.org/10.1097/00000542-199401000-00028.

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10

CHANOKI, M., M. ISHII, K. FUKAI, H. KOBAYASHI, T. HAMADA, K. MURAKAMI i A. TANAKA. "Farber's lipogranulomatosis in siblings: light and electron microscopic studies". British Journal of Dermatology 121, nr 6 (grudzień 1989): 779–85. http://dx.doi.org/10.1111/j.1365-2133.1989.tb08222.x.

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11

Frohbergh, Michael, Xingxuan He i Edward H. Schuchman. "The molecular medicine of acid ceramidase". Biological Chemistry 396, nr 6-7 (1.06.2015): 759–65. http://dx.doi.org/10.1515/hsz-2014-0290.

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Streszczenie:
Abstract Acid ceramidase (N-acylsphingosine deacylase, EC 3.5.1.23; AC) is the lipid hydrolase responsible for the degradation of ceramide into sphingosine and free fatty acids within lysosomes. The enzymatic activity was first identified over four decades ago and is deficient in two rare inherited disorders, Farber lipogranulomatosis (Farber disease) and spinal muscular atrophy with myoclonic epilepsy (SMA-PME). Importantly, AC not only hydrolyzes ceramide into sphingosine within acidic compartments, but also can synthesize ceramide from sphingosine at neutral pH, suggesting that the enzyme may have diverse functions depending on its subcellular location and the local pH. Within cells, AC exists in a complex with other lipid hydrolases and requires a polypeptide cofactor (saposin D) for full hydrolytic activity. Recent studies also have shown that AC is overexpressed in several human cancers, and that inhibition of this enzyme may be a useful cancer drug target. Aberrant AC activity has also been described in several other common diseases. The cDNA and gene (ASAH1) encoding AC have been isolated, several mouse models of AC deficiency have been constructed, and the recombinant enzyme is currently being manufactured for the treatment of Farber disease and SMA-PME. Current information concerning the biology of this enzyme and its role in human disease is reviewed within.
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12

Hadipour, F., Z. Hadipour, A. Tavassoli i Y. Shafaghati. "Farber Disease or Lipogranulomatosis; 4 Case Reports of New Mutations in the Ceramidase Gene". Sarem Journal of Reproductive Medicine 2, nr 3 (1.07.2017): 133–36. http://dx.doi.org/10.29252/sjrm.2.3.133.

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13

Bashyam, M. D., A. K. Chaudhary, M. Kiran, V. Reddy, H. A. Nagarajaram, A. Dalal, L. Bashyam i in. "Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation". Clinical Genetics 86, nr 6 (20.12.2013): 530–38. http://dx.doi.org/10.1111/cge.12316.

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14

Schuchman, Edward H., Michael Frohbergh, Johana M. Guevara, Xingxuan He, Victor A. DeAngelis i Calogera M. Simonaro. "Cartilage and bone disease in a mouse model of Farber lipogranulomatosis and response to treatment". Molecular Genetics and Metabolism 117, nr 2 (luty 2016): S103. http://dx.doi.org/10.1016/j.ymgme.2015.12.431.

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15

Devi, Akela Radha Rama, Munimanda Gopikrishna, Raman Ratheesh, Gorinabele Savithri, Gowrishankar Swarnalata i Murali Bashyam. "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family". Journal of Human Genetics 51, nr 9 (wrzesień 2006): 811–14. http://dx.doi.org/10.1007/s10038-006-0019-z.

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16

Choudhary, Nitin, Sonia Wadhawan, Rahil Singh i Poonam Bhadoria. "Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy". Indian Journal of Anaesthesia 63, nr 11 (2019): 953. http://dx.doi.org/10.4103/ija.ija_418_19.

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17

Nowaczyk, M. J. M., A. Feigenbaum, M. M. Silver, J. Callahan, A. Levin i 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, nr 5 (wrzesień 1996): 655–60. http://dx.doi.org/10.1007/bf01799842.

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18

Koga, Mayumi, Tokuhiro Ishihara, Fumiya Uchino i Takehisa Fujiwaki. "An Autopsy Case of Farber's Lipogranulomatosis in a Japanese Boy with Gastrointestinal Involvement". Pathology International 42, nr 1 (styczeń 1992): 42–48. http://dx.doi.org/10.1111/j.1440-1827.1992.tb01109.x.

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19

Cvitanovic-Sojat, L., R. Gjergja Juraski, F. Sabourdy, A. H. Fensom, K. Fumic, E. Paschke i 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, nr 2 (marzec 2011): 171–73. http://dx.doi.org/10.1016/j.ejpn.2010.06.002.

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20

He, Xingxuan, i Edward H. Schuchman. "Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase". Biomolecules 13, nr 11 (6.11.2023): 1623. http://dx.doi.org/10.3390/biom13111623.

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Streszczenie:
Acid ceramidase (AC) is a lysosomal enzyme required to hydrolyze ceramide to sphingosine by the removal of the fatty acid moiety. An inherited deficiency in this activity results in two disorders, Farber Lipogranulomatosis and spinal muscular atrophy with myoclonic epilepsy, leading to the accumulation of ceramides and other sphingolipids in various cells and tissues. In addition to ceramide hydrolysis, several other activities have been attributed to AC, including a reverse reaction that synthesizes ceramide from free fatty acids and sphingosine, and a deacylase activity that removes fatty acids from complex lipids such as sphingomyelin and glycosphingolipids. A close association of AC with another important enzyme of sphingolipid metabolism, acid sphingomyelinase (ASM), has also been observed. Herein, we used a highly purified recombinant human AC (rhAC) and novel UPLC-based assay methods to investigate the recently described deacylase activity of rhAC against three sphingolipid substrates, sphingomyelin, galactosyl- and glucosylceramide. No deacylase activities were detected using this method, although we did unexpectedly identify a significant ASM activity using natural (C-18) and artificial (Bodipy-C12) sphingomyelin substrates as well as the ASM-specific fluorogenic substrate, hexadecanoylamino-4-methylumbelliferyl phosphorylcholine (HMU-PC). We showed that this ASM activity was not due to contaminating, hamster-derived ASM in the rhAC preparation, and that the treatment of ASM-knockout mice with rhAC significantly reduced sphingomyelin storage in the liver. However, unlike the treatment with rhASM, this did not lead to elevated ceramide or sphingosine levels.
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21

Baz Bartels, M., S. Vlaho, V. Boda, J. Althaus, S. Geb, T. Klingebiel, L. Porto i M. Kieslich. "Osseous Lesion at a 10 year old patient with Lipogranulomatosis (Farber Disease)". Neuropediatrics 39, nr 01 (luty 2008). http://dx.doi.org/10.1055/s-2008-1079542.

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22

Zhang, Hanmeng, Murtaza S. Nagree, Haoyuan Liu, Xiaoqing Pan, Jeffrey A. Medin i Daniel M. Lipinski. "rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis". Gene Therapy, 28.07.2022. http://dx.doi.org/10.1038/s41434-022-00359-w.

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