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

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 nervous system...

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Detalles Bibliográficos
Autores principales: Whitehouse, Abigail, Rehsi, Preeya, Hartley, Louise, Grunewald, Stephanie, Yilmaz, Berna Seker, Pegoretti Baruteau, Kelly, Yaman, Ayhan, Thavagnanam, Suren, Baruteau, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315379/
https://www.ncbi.nlm.nih.gov/pubmed/37404677
http://dx.doi.org/10.1002/jmd2.12375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315379/
https://www.ncbi.nlm.nih.gov/pubmed/37404677
http://dx.doi.org/10.1002/jmd2.12375

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