A Novel Ferroportin Disease in a Japanese Patient
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چکیده
منابع مشابه
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
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Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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Behçet’s disease is a multisystem vasculitis. Its neurological involvement mostly includes parenchymal and non-parenchymal central nervous system manifestations. Peripheral nervous system presentations are rare. A 32-yr-old male patient who fulfilled the international study group criteria for Behçet’s disease, referred to our center with walking difficulty and repeated falling downs. Neurologi...
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Celiac disease is one of the most common autoimmune diseases with a prevalence rate of 0.5-1% in the total population. Diagnosis has increased in recent years; however, many cases of the disease still seem to be diagnosed late. Although the rheumatic manifestations of celiac disease are not uncommon, they are often overlooked. A 30-year-old female patient referred to the rheumatology clinic of ...
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A 15-year-old boy presented with several months history of bilateral axillary lymph adenopathies which were ulcerated subsequently. He had received anti-tuberculosis therapy for more than six months based on suspicious diagnosis of scrofuloderma. Histopathologic examination confirmed the diagnosis of specific lesions of Hodgkin’s disease. These lesions were probably metastatic due to retrograde...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2005
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.44.393