Farber disease: clinical presentation, pathogenesis and a new approach to treatment

[1]  H. Thiesen,et al.  A proinflammatory role for Fas in joints of mice with collagen-induced arthritis , 2004, Arthritis research & therapy.

[2]  W. Wilcox.  Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. , 2004, The Journal of pediatrics.

[3]  R. Buckley.  A historical review of bone marrow transplantation for immunodeficiencies. , 2004, The Journal of allergy and clinical immunology.

[4]  S. Ibrahim,et al.  Fas ligation on macrophages enhances IL-1R1–Toll-like receptor 4 signaling and promotes chronic inflammation , 2004, Nature Immunology.

[5]  T. Marquardt,et al.  Hematopoietic cell transplantation in inborn errors of metabolism , 2004 .

[6]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[7]  H. Moser,et al.  A case of combined Farber and Sandhoff disease , 1989, European Journal of Pediatrics.

[8]  J. Roth,et al.  Successful hematopoietic stem cell transplantation in Farber disease. , 2004, The Journal of pediatrics.

[9]  E. Bayever,et al.  The status of hematopoietic stem cell transplantation in lysosomal storage disease. , 2003, Pediatric neurology.

[10]  C. Peters,et al.  Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines , 2003, Bone Marrow Transplantation.

[11]  F. Hanefeld,et al.  Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy , 2002, European Journal of Pediatrics.

[12]  K. Schulze-Osthoff,et al.  The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells , 2001, Oncogene.

[13]  J. Tschopp,et al.  Ceramide Enables Fas to Cap and Kill* , 2001, The Journal of Biological Chemistry.

[14]  R. Kolesnick,et al.  CD95 Signaling via Ceramide-rich Membrane Rafts* , 2001, The Journal of Biological Chemistry.

[15]  K. Uhas,et al.  Bone marrow transplantation for infantile ceramidase deficiency (Farber disease) , 2000, Bone Marrow Transplantation.

[16]  J. Jaffrezou,et al.  Signalling sphingomyelinases: which, where, how and why? , 1999, Biochimica et biophysica acta.

[17]  R. Kolesnick,et al.  Signal transduction of stress via ceramide. , 1998, The Biochemical journal.

[18]  J. Sanders.  Bone marrow transplantation for pediatric malignancies. , 1997, Pediatric clinics of North America.

[19]  H. Moser,et al.  Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells , 1995, Journal of the Neurological Sciences.

[20]  A. Poulos,et al.  Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. , 1992, The Journal of biological chemistry.

[21]  K. Wisniewski,et al.  Farber lipogranulomatosis: an unusual presentation in a black child. , 1986, Pediatric neurology.

[22]  H. Moser,et al.  Phenotypic variability in siblings with Farber disease. , 1984, The Journal of pediatrics.

[23]  H. Moser,et al.  Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. , 1980, The Johns Hopkins medical journal.

[24]  S. Farber,et al.  Lipogranulomatosis; a new lipo-glycoprotein storage disease. , 1957, Journal of the Mount Sinai Hospital, New York.

[25]  S. Farber.  A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. , 1952, A.M.A. American journal of diseases of children.