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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...
Autores principales: | Whitehouse, Abigail, Rehsi, Preeya, Hartley, Louise, Grunewald, Stephanie, Yilmaz, Berna Seker, Pegoretti Baruteau, Kelly, Yaman, Ayhan, Thavagnanam, Suren, Baruteau, Julien |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
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Materias: | |
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 |
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