منابع مشابه
Introducing Two Cases of Farber Disease
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
متن کاملA simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease.
Acid ceramidase (aCDase) is one of several enzymes responsible for ceramide degradation within mammalian cells. As such, aCDase regulates the intracellular levels of the bioactive lipid ceramide. An inherited deficiency of aCDase activity results in Farber disease (FD), also called lipogranulomatosis, which is characterized by ceramide accumulation in the tissues of patients. Diagnosis of FD is...
متن کاملCLINICAL MANIFESTATIONS AND DIAGNOSIS OF CELIAC DISEASE IN CHILDREN
Celiac disease (CD) is defined as a permanent intolerance to gluten with clinical manifestations and abnormal small intestinal mucosa. A case series study was performed to obtain information about clinical manifestations, age of presentation and diagnosis of CD. For this purpose, hospital records of patients who were admitted to the gastrointestinal ward in the Children's Medical Center from 1...
متن کاملFarber disease: clinical presentation, pathogenesis and a new approach to treatment
BACKGROUND Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation and contractures, subcutaneous nodu...
متن کاملClinical Manifestations and Diagnosis of Non-Alcoholic Fatty Liver Disease
Background & Objective: Nonalcoholic fatty liver diseases (NAFLD) is the major cause of hepatocellular carcinoma and increases the risk of mortality. Understanding the trends of its clinical and biochemical changes is essential to identify patients with NAFLD that are at the greatest risk of nonalcoholic steatohepatitis (NASH) and cirrhosis in Iran. M...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2012
ISSN: 1817-1745
DOI: 10.4103/1817-1745.102592