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

Abstract 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-synth...

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Detalhes bibliográficos

Principais autores:	Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2022-11-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Betaine Homocysteine Hyperhomocysteinemia Cystathionine-beta-synthase deficiency cblC deficiency Methionine
Acesso em linha:	https://doi.org/10.1186/s13023-022-02567-4
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