نتایج جستجو برای: farber disease
تعداد نتایج: 1490893 فیلتر نتایج به سال:
Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted fro...
For every patient and doctor, and for every scientist peering at a flask of deranged cells, this book connects the moment to the multiple voices that have played off each other since the first person squeezed a painful lump and wondered what to do. Reading Siddhartha Mukherjee’s The Emperor of all Maladies: The Biography of Cancer, the full accomplishment of this book slowly dawned on me. The s...
A major lipid-signaling pathway in mammalian cells implicates the generation of ceramide from the ubiquitous sphingolipid sphingomyelin (SM). Hydrolysis of SM by a sphingomyelinase present in acidic compartments has been reported to mediate, via the production of ceramide, the apoptotic cell death triggered by stress-inducing agents. In the present study, we investigated whether the ceramide fo...
A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules, hoarseness, swallowing difficulty with recurrent respiratory infections, nystagmus, and mental and developmental retardation. She was misdiagnosed as having juvenile rheumatoid arthritis at several univers...
Marcella Cesana and George Q. Daley Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Boston Children’s Hospital and Dana Farber Cancer Institute, Boston, MA 02115; Harvard Stem Cell Institute, Boston, MA 02115; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115; Manton Center for Orphan Disease Research, Boston, M...
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