منابع مشابه
Early detection of alkaptonuria.
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of ...
متن کاملAlkaptonuria: early detection.
The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...
متن کاملAlkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
متن کاملA rapid, early detection of oral squamous cell carcinoma: Real time PCR based detection of tetranectin
The current study is focused on determining the mRNA expression levels of tetranectin, to detect oral squamous cell carcinoma (OSCC) and thus aiding in its classification at an early stage. RNA was isolated and cDNA synthesis was performed from the saliva samples of the patients and healthy individuals. A semiquantitative PCR based analysis was performed prior to quantitative and expression bas...
متن کاملA rapid, early detection of oral squamous cell carcinoma: Real time PCR based detection of tetranectin
The current study is focused on determining the mRNA expression levels of tetranectin, to detect oral squamous cell carcinoma (OSCC) and thus aiding in its classification at an early stage. RNA was isolated and cDNA synthesis was performed from the saliva samples of the patients and healthy individuals. A semiquantitative PCR based analysis was performed prior to quantitative and expression bas...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology and Leprology
سال: 2005
ISSN: 0378-6323
DOI: 10.4103/0378-6323.16236