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Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

BACKGROUND: Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years in pyridoxine non-responsive cystathionine beta-synthase (pnr...

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Detalles Bibliográficos
Autores principales:	Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664596/ https://www.ncbi.nlm.nih.gov/pubmed/36376887 http://dx.doi.org/10.1186/s13023-022-02567-4

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