Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects

Abstract Isolated remethylation defects are rare inherited diseases caused by a defective remethylation of homocysteine to methionine, preventing various essential methylation reactions to occur. Patients present with a systemic phenotype, which can especially affect the central and peripheral nervo...

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Bibliographic Details
Main Authors: Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12375