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Radio-imaging for detecting congenitally defective metabolic pathways: A review

Author(s): Sushil Kachewar | Devidas Kulkarni | Smita Sankaye

Journal: Australasian Medical Journal
ISSN 1836-1935

Volume: 4;
Issue: 9;
Start page: 480;
Date: 2011;
Original page

Keywords: Congenital metabolic defects | radiograph | ultrasound | CT scan

Congenitally defective metabolic pathways adversely affectthe quality of life of patients as well as their care givers. Earlydiagnosis is therefore vital. Frequently, radio-imaging aloneraises a strong suspicion and sometimes even providesconclusive evidence of defective metabolic pathways, whenthe patient presents with signs and symptoms that clinicallyfail to lead to a definitive diagnosis. This article discusses therole of radiological imaging that can lead to a strong suspicion,or even a diagnosis of these errors.
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