Article

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India

2021-08-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders which manifest mainly in infancy or childhood with developmental delay, neuroregression, epilepsy, movement disorders and autonomic symptoms. <bold>Methodology: </bold>A retrospective review of genetically confirmed cases of disorders of tetrahydrobiopterin...

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Literature Corpus work: 0e079e3e-dd57-5f97-aedf-22ff2a049168
DOI: 10.21203/rs.3.rs-800087/v1

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