Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency

Yverneau, M; Leroux, S; Imbard, A; Gleich, F; Arion, A; Moreau, C; Nassogne, MC; Szymanowski, M; Tardieu, M; Touati, G; Bueno, M; Chapman, KA; Chien, YH; Huemer, M; Jesina, P; Janssen, MCH; Kolker, S; Kozich, V; Lavigne, C; Lund, AM; Mochel, F; Morris, A; Pons, MR; Porras-Hurtado, GL; Benoist, JF; Damaj, L; Schiff, M

Schiff, M (通讯作者)，Univ Paris Cite, Necker & Robert Debre Hosp, APHP, Dept Pediat,Reference Ctr Inborn Error Metab, F-75015 Paris, France.

JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (4): 848

Abstract

MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-o......

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