Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency-Reference-Cited by-同舟云学术

Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency

Published:2020-11-02 Issue:3 Volume:44 Page:777-786
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Marelli Cecilia¹²^ORCID,Lavigne Christian³,Stepien Karolina M.⁴,Janssen Mirian C. H.⁵,Feillet Francois⁶⁷,Kožich Viktor⁸,Jesina Pavel⁸,Schule Rebecca⁹¹⁰,Kessler Christoph⁹¹⁰,Redonnet‐Vernhet Isabelle¹¹¹²¹³,Regnier Adeline¹⁴,Burda Patricie¹⁵,Baumgartner Matthias¹⁵,Benoist Jean‐Francois¹⁶¹⁷,Huemer Martina¹⁵¹⁸,Mochel Fanny¹⁹²⁰²¹,

Affiliation:

1. Expert Centre for Neurogenetic Diseases and Adult Mitochondrial and Metabolic Diseases Univ Montpellier, CHU Montpellier France

2. MMDN, Univ Montpellier, EPHE, INSERM Montpellier France

3. Internal Medicine Department Angers University Hospital Angers France

4. Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford Care Organisation, Northern Care Alliance Salford UK

5. Department of Internal Medicine Radboud University Medical Center Nijmegen The Netherlands

6. Reference Center for Inborn Errors of Metabolism, Pediatric unit University Hospital of Nancy Nancy France

7. INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE) Faculty of Medicine of Nancy Nancy France

8. Department of Pediatrics and Inherited Metabolic Disorders, Charles University‐First Faculty of Medicine and General University Hospital in Prague Praha 2 Czech Republic

9. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen Germany

10. German Center for Neurodegenerative Diseases Tübingen Germany

11. lNSERM U1211, Université de Bordeaux Bordeaux France

12. Laboratoire de Biochimie Centre Hospitalier Universitaire de Bordeaux Bordeaux France

13. Centre de référence pour les maladies mitochondriales de l'enfant à l'adulte (CARAMMEL) Centre Hospitalier Universitaire de Bordeaux Bordeaux France

14. Department of General Practice Faculty of Medicine of Clermont‐Ferrand Clermont‐Ferrand France

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

16. Biochemistry Laboratory Robert‐Debré University Hospital, APHP Paris France

17. LYPSIS2, Université Paris‐Saclay Chatenay‐Malabry France

18. Department of Paediatrics Landeskrankenhaus Bregenz Austria

19. APHP, La Pitié‐Salpêtrière University Hospital, Department of Genetics Paris France

20. Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle épinière, ICM Paris France

21. APHP, La Pitié‐Salpêtrière University Hospital Reference Center for Adult Neurometabolic diseases Paris France

Funder

Agentura Pro Zdravotnický Výzkum České Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12323

Reference28 articles.

1. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

2. Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

3. Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency

4. Isolated remethylation disorders: do our treatments benefit patients?

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3. Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency;Journal of Inherited Metabolic Disease;2022-05-09