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Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau, Mathilde; Leroux, Stéphanie; Imbard, Apolline; Gleich, Florian; Arion, Alina; Moreau, Caroline; Nassogne, Marie-Cécile; Szymanowski, Marie; Tardieu, Marine; Touati, Guy; Bueno, María; Chapman, Kimberly A; Chien, Yin-Hsiu; Huemer, Martina; Jesina, Pavel; Janssen, Mirian C H; Kölker, Stefan; Kozich, Viktor; Lavigne, Christian; Lund, Allan Meldgaard; Mochel, Fanny; Morris, Andrew; Pons, Mónica Ruiz; Porras-Hurtado, Gloria Liliana; Benoist, Jean-François; Damaj, Léna; Schiff, Manuel.
Affiliation
  • Yverneau M; Department of Child and Adolescent Medicine, Rennes Hospital, Rennes, France.
  • Leroux S; Department of Child and Adolescent Medicine, Rennes Hospital, Rennes, France.
  • Imbard A; Biochemistry Laboratory, Robert Debré Hospital, APHP, Paris, France.
  • Gleich F; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, APHP, Université Paris Cité, Paris, France.
  • Arion A; LYPSIS, Université Paris-Saclay, Châtenay-Malabry, France.
  • Moreau C; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Nassogne MC; Department of Pediatrics, Caen Hospital, Caen, France.
  • Szymanowski M; Biochemistry Laboratory, Rennes Hospital, Rennes, France.
  • Tardieu M; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
  • Touati G; Department of Pediatrics, Estaing Hospital, Clermont-Ferrand, France.
  • Bueno M; Department of Pediatrics, Tours Hospital, Tours, France.
  • Chapman KA; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Toulouse Hospital, Toulouse, France.
  • Chien YH; Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Huemer M; Section of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia, USA.
  • Jesina P; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
  • Janssen MCH; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Kölker S; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Kozich V; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, General University Hospital, Charles University, Prague, Czech Republic.
  • Lavigne C; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Lund AM; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mochel F; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, General University Hospital, Charles University, Prague, Czech Republic.
  • Morris A; Department of Internal Medicine, Angers University Hospital, Angers, France.
  • Pons MR; Departments of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark.
  • Porras-Hurtado GL; Department of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.
  • Benoist JF; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester.
  • Damaj L; Alder Hey Children's Hospital, Liverpool, UK.
  • Schiff M; H.U. Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain.
J Inherit Metab Dis ; 45(4): 848-861, 2022 07.
Article in En | MEDLINE | ID: mdl-35460084
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Full text: 1 Database: MEDLINE Main subject: Homocystinuria Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Newborn Language: En Year: 2022 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Homocystinuria Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Newborn Language: En Year: 2022 Type: Article