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First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
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1186/s13023-017-0707-0. PMC 5602850. PMID 28915903. de Diego V, Martínez-Monseny AF,
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Evaluations". HIE Help Center. Retrieved 2017-11-16. Agut T, LeĂłn M, Rebollo M,
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J, Arca G, Garcia-Alix A (July 2014). "Early identification of brain injury...
182:, Jordi; Málaga, Ignacio; Pardo, Rafael; García-Gonzalez, Pedro; Jou, Cristina;... 134: 11: 208:, J; Armstrong-Moron, J (13 July 2014). "Vanishing white matter disease... 204:
Madruga-Garrido, M; Aguirre-Rodriguez, J; Gonzalez-Alvarez, V; O'Callaghan, M;
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LĂłpez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares...
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PMID 33440761. Castiglioni, C.; Feillet, F.; Barnerias, C.; Wiedemann, A.;
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J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas...
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J, SanmartĂ­ F, Bombau G, et al. Progressive ataxia and myoclonic epilepsy
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Elena; Montero, Raquel; Garcia-Cazorla, Àngels; De Aragón, Ana Martínez;
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Pilar RodrĂ­guez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi
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Branched-chain keto acid dehydrogenase kinase deficiency
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First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
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