نتایج جستجو برای: homogentisic acid
تعداد نتایج: 747448 فیلتر نتایج به سال:
Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis. It enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed and is also one of the conditions in the charter of group of inborn errors of metabolism. It is of interest to note that the disease wa...
Even though intervertebral disc degeneration can be found in the natural course of alkaptonuria, detection of the disease by black disc color change in a patient without any other presentation of alkaptonuria is an exceptionally rare condition. We have reported a very rare case of alkaptonuria presented with low back pain and steppage gait in a 51-year-old male with a complaint of chronic low...
T he patient, a 43 year old woman with a 35 year history of alkaptonuria (fig 1A), presented to the orthopaedic clinic for pain in the right shoulder. Clinical examination demonstrated an important reduction of shoulder mobility with, on radiographic evaluation, a greatly destroyed joint (fig 1B). The patient was admitted to hospital to obtain a shoulder prosthesis. Ochronosis is a rare autosom...
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