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Original Article

Ceramides in a Patient with Lipogranulomatosis (Farber's Disease) with Chronic Course

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Pages 393-405 | Received 14 Jan 1971, Accepted 15 Mar 1971, Published online: 08 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (1)

Karin Samuelsson. (1971) Identification and Quantitative Determination of Ceramides in Human Plasma. Scandinavian Journal of Clinical and Laboratory Investigation 27:4, pages 371-380.
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Articles from other publishers (36)

Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade & Jeffrey A. Medin. (2023) Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. Biomolecules 13:2, pages 274.
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Catherine Meyer-Schwesinger. (2021) Lysosome function in glomerular health and disease. Cell and Tissue Research 385:2, pages 371-392.
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Kalia Kyriakou, Carsten W. Lederer, Marina Kleanthous, Anthi Drousiotou & Anna Malekkou. (2020) Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. International Journal of Molecular Sciences 21:5, pages 1607.
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Michael Beck, Hugo W. Moser & Konrad Sandhoff. 2020. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 547 557 .
Fabian P.S. Yu, Salvatore Molino, Jakub Sikora, Shauna Rasmussen, Jitka Rybova, Everett Tate, Aron M. Geurts, Patricia V. Turner, William M. Mckillop & Jeffrey A. Medin. (2019) Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. Laboratory Investigation 99:10, pages 1572-1592.
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Fabian P. S. Yu, Samuel Amintas, Thierry Levade & Jeffrey A. Medin. (2018) Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet Journal of Rare Diseases 13:1.
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Fabian P. S. Yu, Diana Islam, Jakub Sikora, Shaalee Dworski, Jiří Gurka, Lucía López-Vásquez, Mingyao Liu, Wolfgang M. Kuebler, Thierry Levade, Haibo Zhang & Jeffrey A. Medin. (2018) Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. American Journal of Physiology-Lung Cellular and Molecular Physiology 314:3, pages L406-L420.
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Anuradha Ganesh, Fathiya Al-Murshedi, Sana Al-Zuhaibi & Khalid Al-Thihli. 2017. The Eye in Pediatric Systemic Disease. The Eye in Pediatric Systemic Disease 359 460 .
Michael Beck, Hugo W. Moser & Konrad Sandhoff. 2015. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 395 402 .
E. Ellen Jones, Shaalee Dworski, Daniel Canals, Josefina Casas, Gemma Fabrias, Drew Schoenling, Thierry Levade, Chadrick Denlinger, Yusuf A. Hannun, Jeffrey A. Medin & Richard R. Drake. (2014) On-Tissue Localization of Ceramides and Other Sphingolipids by MALDI Mass Spectrometry Imaging. Analytical Chemistry 86:16, pages 8303-8311.
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Sandra Merscher & Alessia Fornoni. (2014) Podocyte Pathology and Nephropathy – Sphingolipids in Glomerular Diseases. Frontiers in Endocrinology 5.
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Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Monica Bayes, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu-Abadie, Ivo Gut, Thierry Levade, Haluk Topaloglu & Judith Melki. (2012) Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1. The American Journal of Human Genetics 91:1, pages 5-14.
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Junko Matsuda, Makiko Kido, Keiko Tadano-Aritomi, Ineo Ishizuka, Kumiko Tominaga, Kazunori Toida, Eiji Takeda, Kunihiko Suzuki & Yasuhiro Kuroda. (2004) Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse. Human Molecular Genetics 13:21, pages 2709-2723.
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AM Yeager, K Armfield Uhas, CD Coles, PC Davis, WL Krause & HW Moser. (2000) Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). Bone Marrow Transplantation 26:3, pages 357-363.
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A. Fiumara, F. Nigro, L. Pavone & H. W. Moser. (1993) Farber disease with prolonged survival. Journal of Inherited Metabolic Disease 16:5, pages 915-916.
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Takehisa Fujiwaki, Sumiko Hamanaka, Mayumi Koga, Tokuhiro Ishihara, Ryuuta Nishikomori, Eiichi Kinoshita & Kenshi Furusho. (2007) A Case of Farber Disease. Pediatrics International 34:1, pages 72-79.
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Y. Ben-Yoseph, R. Gagné, M. R. Parvathy, D. A. Mitchell & T. Momoi. (2008) Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. Clinical Genetics 36:1, pages 38-42.
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Stephen J. Qualman, Hugo W. Moser, David Valle, Anne E. Moser, Stylianos E. Antonarakis, John K. Boitnott, William H Zinkham, John M. Opitz & Jay Bernstein. (1987) Farber Disease: Pathologic diagnosis in sibs with phenotypic variability. American Journal of Medical Genetics 28:S3, pages 233-241.
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J. F. Pellissier, M. Berard-Badier & N. Pinsard. (1986) Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. Acta Neuropathologica 72:2, pages 178-188.
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U. Burck, H. W. Moser, H. H. Goebel, R. Gr�ttner & K. R. Held. (1985) A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. European Journal of Pediatrics 143:3, pages 203-208.
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Julian N. Kanfer & Sen-itiroh HakomoriJulian N. Kanfer. 1983. Sphingolipid Biochemistry. Sphingolipid Biochemistry 249 325 .
Winston W. Chen, Ann B. Moser & Hugo W. Moser. (1981) Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts. Archives of Biochemistry and Biophysics 208:2, pages 444-455.
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Christian Schmoeckel & Michael Hohlfed. (1979) A specific ultrastructural marker for disseminated lipogranulomatosis (Farber). Archives of Dermatological Research 266:2, pages 187-196.
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Daniel Bergsma. 1979. Birth Defects Compendium. Birth Defects Compendium 23 1089 .
M. TOPPET, E. VAMOS‐HURWITZ, G. JONNIAUX, N. CREMER, M. TONDEUR & S. PELC. (2008) FARBER'S DISEASE AS A CERAMIDOSIS: CLINICAL, RADIOLOGICAL AND BIOCHEMICAL ASPECTS. Acta Paediatrica 67:1, pages 113-119.
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G. H. Amirhakimi, Parviz Haghighi, M. A. Ghalambor & S. Honari. (2008) Familial Lipogranulomatosis (Farber's disease). Clinical Genetics 9:6, pages 625-630.
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John Dulaney, Hugo W. Moser, James Sidbury & Aubrey Milunsky. 1976. Current Trends in Sphingolipidoses and Allied Disorders. Current Trends in Sphingolipidoses and Allied Disorders 403 411 .
Mutsumi Sugita, Masao Iwamori, James Evans, Robert H. McCluer, John T. Dulaney & Hugo W. Moser. (1974) High performance liquid chromatography of ceramides: application to analysis in human tissues and demonstration of ceramide excess in Farber's disease. Journal of Lipid Research 15:3, pages 223-226.
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C.V. Viswanathan. (1974) Coupled gas chromatography—mass spectrometry in the separation and characterization of polar lipids. Journal of Chromatography A 98:1, pages 105-128.
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K.-A. Karlsson, B.E. Samuelsson, T. Scherstén, G.O. Steen & L. Wahlqvist. (1974) The sphingolipid composition of human renal carcinoma. Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism 337:3, pages 349-355.
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M. Sugita, P. Connolly, J. T. Dulaney & H. W. Moser. (1973) Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease. Lipids 8:7, pages 401-406.
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Kunihiko Suzuki & Kinuko Suzuki. 1974. Biology of Brain Dysfunction. Biology of Brain Dysfunction 1 73 .
Mutsumi Sugita, John T. Dulaney & Hugo W. Moser. (1972) Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis). Science 178:4065, pages 1100-1102.
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B. Gerstl, M. G. Tavaststjerna, L. F. Eng & J. K. Smith. (1972) Sphingolipids and their precursors in human brain (Normal and MS). Zeitschrift f�r Neurologie 202:2, pages 104-120.
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K. Samuelsson, R. Zetterström & B. I. Ivemark. 1972. Sphingolipids, Sphingolipidoses and Allied Disorders. Sphingolipids, Sphingolipidoses and Allied Disorders 533 548 .
Sven Hammarström. (1971) A convenient procedure for the synthesis of ceramides. Journal of Lipid Research 12:6, pages 760-765.
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