Article

Navigating Thrombotic Terrain: Unveiling a Novel Homocystinuria Mutation Associated with Thrombophilia in a 16-Year-Old: A Case Report

2024-03-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold><italic>Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. </italic>Homocystinuria, encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and urine. Conversely, homocystinuria due to Methylenetetrahydrofolatereductase (MTHFR) deficiency, a rare...

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Literature Corpus work: 58c1c507-4340-5904-b23f-c111addc79cf
DOI: 10.21203/rs.3.rs-3997075/v1

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