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Page 1
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F. Valayannopoulos V, et al. Among authors: touati g. Orphanet J Rare Dis. 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2. Orphanet J Rare Dis. 2019. PMID: 30871635 Free PMC article.
[Homocystinuria in adulthood].
Quéré I, Simorre B, Ruivard M, Le Hello C, Parrot F, Mégnien JL, Touati G, Chassé JF, Saudubray JM, Zittoun J. Quéré I, et al. Among authors: touati g. Rev Med Interne. 2001 Dec;22 Suppl 3:347s-355s. Rev Med Interne. 2001. PMID: 11794879 Review. French.
NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.
Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G. Masurel-Paulet A, et al. Among authors: touati g. J Inherit Metab Dis. 2008 Feb;31(1):81-7. doi: 10.1007/s10545-008-0793-1. Epub 2008 Jan 25. J Inherit Metab Dis. 2008. PMID: 18214711
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Gitiaux C, Roze E, Kinugawa K, Flamand-Rouvière C, Boddaert N, Apartis E, Valayannopoulos V, Touati G, Motte J, Devos D, Mention K, Dobbelaere D, Rodriguez D, Roubertie A, Chabrol B, Feillet F, Vidailhet M, Bahi-Buisson N. Gitiaux C, et al. Among authors: touati g. Mov Disord. 2008 Dec 15;23(16):2392-7. doi: 10.1002/mds.22313. Mov Disord. 2008. PMID: 18823014
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: touati g. Mol Genet Metab. 2009 Jul;97(3):172-8. doi: 10.1016/j.ymgme.2009.03.006. Epub 2009 Mar 24. Mol Genet Metab. 2009. PMID: 19375370
174 results