Betaine anhydrous in homocystinuria: results from the RoCH registry-Reference-Cited by-同舟云学术

Betaine anhydrous in homocystinuria: results from the RoCH registry

Published:2019-03-14 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Valayannopoulos Vassili^ORCID,Schiff Manuel,Guffon Nathalie,Nadjar Yann,García-Cazorla Angels,Martinez-Pardo Casanova Mercedes,Cano Aline,Couce Maria L.,Dalmau Jaime,Peña-Quintana Luis,Rigalleau Vincent,Touati Guy,Aldamiz-Echevarria Luis,Cathebras Pascal,Eyer Didier,Brunet Dominique,Damaj Léna,Dobbelaere Dries,Gay Claire,Hiéronimus Sylvie,Levrat Virginie,Maillot François

Funder

Orphan Europe-Ricordati

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1036-2.pdf

Reference33 articles.

1. Morris AA, Kozich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017;40:49–74.

2. Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 2017;40:21–48.

3. Maclean KN. Betaine treatment of cystathionine β-synthase-deficient homocystinuria; does it work and can it be improved? Orphan Drugs Res Rev. 2012;2012:23–33.