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

被引：0
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作者：
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
机构：
[1] Hôpital Robert Debré,Laboratoire de Biochimie
[2] APHP,Hormonologie
[3] Hôpital Necker-Enfants-Malades,Laboratoire de Biochimie Métabolique
[4] APHP,LYPSIS2, Faculté de Pharmacie de Chatenay
[5] Université Paris-Saclay,Malabry
[6] Unité d’Epidémiologie Clinique,UF de Pharmacologie | Service de Microbiologie
[7] Unité de Recherche Clinique,Centre de Référence Maladies Héréditaires du Métabolisme
[8] Hôpital Robert Debré,Center for Molecular Diseases
[9] Inserm CIC-EC 1426,Centre d’Investigations Cliniques
[10] Hôpital Jean Verdier,Centre de Référence des Maladies Métaboliques, Inserm U1256 NGERE
[11] UMR 1137,Centre de Référence Maladies Héréditaires du Métabolisme
[12] Inserm,Inserm UMR_S1163, Institut Imagine
[13] Hôpital Robert Debré,undefined
[14] APHP,undefined
[15] Lausanne University Hospital,undefined
[16] Hôpital Robert Debré,undefined
[17] APHP,undefined
[18] Centre de Compétence Maladies Héréditaires du Métabolisme,undefined
[19] Centre Hospitalo-Universitaire de Nantes,undefined
[20] Centre Hospitalo-Universitaire Brabois Enfants,undefined
[21] Hôpital Necker-Enfants-Malades,undefined
[22] APHP,undefined
[23] Université Paris Cité,undefined
来源：
Orphanet Journal of Rare Diseases | / 17卷
关键词：
Betaine; Homocysteine; Hyperhomocysteinemia; Cystathionine-beta-synthase deficiency; cblC deficiency; Methionine; S-adenosylmethionine; Pharmacokinetics;
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