TY  - JOUR
AU  - Yverneau, Mathilde
AU  - Leroux, Stéphanie
AU  - Imbard, Apolline
AU  - Gleich, Florian
AU  - Arion, Alina
AU  - Moreau, Caroline
AU  - Nassogne, Marie-Cécile
AU  - Szymanowski, Marie
AU  - Tardieu, Marine
AU  - Touati, Guy
AU  - Bueno, María
AU  - Chapman, Kimberly A
AU  - Chien, Yin-Hsiu
AU  - Huemer, Martina
AU  - Ješina, Pavel
AU  - Janssen, Mirian C H
AU  - Kölker, Stefan
AU  - Kožich, Viktor
AU  - Lavigne, Christian
AU  - Lund, Allan Meldgaard
AU  - Mochel, Fanny
AU  - Morris, Andrew
AU  - Pons, Mónica Ruiz
AU  - Porras-Hurtado, Gloria Liliana
AU  - Benoist, Jean-François
AU  - Damaj, Léna
AU  - Schiff, Manuel
AU  - E-HOD Consortium
PY  - 2022
DO  - 10.1002/jimd.12504
UR  - http://hdl.handle.net/10668/22195
T2  - Journal of inherited metabolic disease
AB  - MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-onset patients mostly exhibit a life-threatening acute neurologic deterioration. Furthermore, data on...
LA  - en
KW  - EHOD
KW  - MTHFR deficiency
KW  - homocystinuria
KW  - neurodevelopmental outcome
KW  - newborn screening
KW  - remethylation defects
KW  - Cohort Studies
KW  - Homocysteine
KW  - Homocystinuria
KW  - Humans
KW  - Infant, Newborn
KW  - Methylenetetrahydrofolate Reductase (NADPH2)
KW  - Muscle Spasticity
KW  - Psychotic Disorders
KW  - Retrospective Studies
TI  - Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
TY  - research article
VL  - 45
ER  -