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1Academic JournalInfluence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, MarÃa, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, JeÅ¡ina, Pavel, Janssen, Mirian C H, Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras-Hurtado, Gloria Liliana, Benoist, Jean-François, Damaj, Léna, Schiff, Manuel, E-HOD Consortium
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire
المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)
مصطلحات موضوعية: Cohort Studies, Homocysteine, Homocystinuria, Humans, Infant, Newborn, Methylenetetrahydrofolate Reductase (NADPH2), Muscle Spasticity, Psychotic Disorders, Retrospective Studies, EHOD, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects
Relation: boreal:278995; http://hdl.handle.net/2078.1/278995; info:pmid/35460084; urn:ISSN:0141-8955; urn:EISSN:1573-2665
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2Academic JournalInfluence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, MarÃa, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, JeÅ¡ina, Pavel, Janssen, Mirian C H, Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras-Hurtado, Gloria Liliana, Benoist, Jean-François, Damaj, Léna, Schiff, Manuel, E-HOD Consortium
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire
المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)
مصطلحات موضوعية: Cohort Studies, Homocysteine, Homocystinuria, Humans, Infant, Newborn, Methylenetetrahydrofolate Reductase (NADPH2), Muscle Spasticity, Psychotic Disorders, Retrospective Studies, EHOD, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects
Relation: boreal:278995; http://hdl.handle.net/2078.1/278995; info:pmid/35460084; urn:ISSN:0141-8955; urn:EISSN:1573-2665