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Bile acid synthetic defects: Simplified approach in a nutshell |
Aathira Ravindranath, Moinak Sen Sarma ∗, Surender Kumar Yachha |
Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
∗ Corresponding author.
E-mail address: moinaksen@yahoo.com (M. Sen Sarma). |
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Abstract Bile acid synthetic defects (BASD) constitute a rare group of disorders with manifestations in children as well as adults. Diagnosing the individual BASD mandates a lucid understanding of the bile acid synthetic pathway. However, the synthesis pathway is complex, consisting of numerous enzymes and intermediate products that are volatile in the physician’s memory. Despite paucity of literature, a simplified approach to the BASD is presented in this paper.
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