Influence of early identification and therapy on long‐term outcomes in early‐onset <scp>MTHFR</scp> deficiency-Reference-Cited by-同舟云学术

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

Published:2022-05-09 Issue:4 Volume:45 Page:848-861
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Yverneau Mathilde¹,Leroux Stéphanie¹,Imbard Apolline²³⁴,Gleich Florian⁵,Arion Alina⁶,Moreau Caroline⁷,Nassogne Marie‐Cécile⁸,Szymanowski Marie⁹,Tardieu Marine¹⁰,Touati Guy¹¹,Bueno María¹²,Chapman Kimberly A.¹³,Chien Yin‐Hsiu¹⁴,Huemer Martina¹⁵¹⁶,Ješina Pavel¹⁷,Janssen Mirian C. H.¹⁸,Kölker Stefan⁵,Kožich Viktor¹⁷,Lavigne Christian¹⁹,Lund Allan Meldgaard²⁰,Mochel Fanny²¹,Morris Andrew²²²³,Pons Mónica Ruiz²⁴,Porras‐Hurtado Gloria Liliana²⁵,Benoist Jean‐François²³⁴,Damaj Léna²⁶,Schiff Manuel³²⁷^ORCID,Martins Ana Maria,Alonso Javier Blasco,Chabrol Brigitte,Crushell Ellen,Dionisi‐Vici Carlo,Grünewald Stephanie,Mention Karine,Mundy Helen,Murphy Elaine,Fraile Pilar Quijada,Ruiz Carlos José,Ruiz Gómez Maria Ángeles,Santra Saikat,Scherer Thomas,Stainforth Collette,Stepien Karolina M.,Sunder‐Plassmann Gere,Van Hove Johan L. K.,

Affiliation:

1. Department of Child and Adolescent Medicine Rennes Hospital Rennes France

2. Biochemistry Laboratory, Robert Debré Hospital, APHP Paris France

3. Department of Pediatrics, Reference Center for Inborn Error of Metabolism Necker and Robert‐Debré Hospital, APHP, Université Paris Cité Paris France

4. LYPSIS, Université Paris‐Saclay Châtenay‐Malabry France

5. Division of Child Neurology and Metabolic Medicine Center for Child and Adolescent Medicine, University Hospital Heidelberg Heidelberg Germany

6. Department of Pediatrics Caen Hospital Caen France

7. Biochemistry Laboratory, Rennes Hospital Rennes France

8. Pediatric Neurology Unit, Cliniques Universitaires Saint‐Luc, UCLouvain Brussels Belgium

9. Department of Pediatrics Estaing Hospital Clermont‐Ferrand France

10. Department of Pediatrics Tours Hospital Tours France

11. Department of Pediatrics, Reference Center for Inborn Error of Metabolism Toulouse Hospital Toulouse France

12. Hospital Universitario Virgen del Rocío Sevilla Spain

13. Section of Genetics and Metabolism Children's National Health System Washington District of Columbia USA

14. Department of Pediatrics National Taiwan University Hospital, College of Medicine, National Taiwan University Taipei Taiwan

15. Division of Metabolism and Children's Research Center University Children's Hospital Zürich Switzerland

16. Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria

17. Department of Pediatrics and Inherited Metabolic Disorders First Faculty of Medicine, General University Hospital, Charles University Prague Czech Republic

18. Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands

19. Department of Internal Medicine Angers University Hospital Angers France

20. Departments of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases Copenhagen University Hospital Copenhagen Denmark

21. Department of Genetics AP‐HP, Pitié‐Salpêtrière University Hospital Paris France

22. Willink Metabolic Unit, Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust Manchester

23. Alder Hey Children's Hospital Liverpool UK

24. H.U. Ntra. Sra. de la Candelaria Santa Cruz de Tenerife Spain

25. Clínica Comfamiliar Pereira Colombia

26. Department of Pediatrics, Competence Center of Inherited Metabolic Disorders Rennes Hospital Rennes France

27. Inserm UMR_S1163, Institut Imagine Paris France

Funder

European Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12504

Reference43 articles.

1. Treatment of Inherited Homocystinurias

2. Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology

3. The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

4. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview

5. Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders

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