Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry-Reference-Cited by-同舟云学术

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Published:2019-02-17 Issue:2 Volume:42 Page:333-352
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Huemer Martina¹²³,Diodato Daria⁴,Martinelli Diego⁴,Olivieri Giorgia⁴,Blom Henk⁵,Gleich Florian⁶,Kölker Stefan⁶,Kožich Viktor⁷,Morris Andrew A.⁸,Seifert Burkhardt⁹,Froese D. Sean¹²,Baumgartner Matthias R.¹²,Dionisi‐Vici Carlo⁴,Martin Carlos Alcalde¹⁰,Baethmann Martina¹¹,Ballhausen Diana¹²,Blasco‐Alonso Javier¹³,Boy Nikolas⁶,Bueno Maria¹⁴,Burgos Peláez Rosa¹⁵,Cerone Roberto¹⁶,Chabrol Brigitte¹⁷,Chapman Kimberly A.¹⁸,Couce Maria Luz¹⁹,Crushell Ellen²⁰,Dalmau Serra Jaime²¹,Diogo Luisa²²,Ficicioglu Can²³,García Jimenez Maria Concepcion²⁴,García Silva Maria Teresa²⁵,Gaspar Ana Maria²⁶,Gautschi Matthias²⁷,González‐Lamuño Domingo²⁸,Gouveia Sofia¹⁹,Grünewald Stephanie²⁹,Hendriksz Chris³⁰,Janssen Mirian C. H.³¹,Jesina Pavel⁷,Koch Johannes³²,Konstantopoulou Vassiliki³³,Lavigne Christian³⁴,Lund Allan M.³⁵,Martins Esmeralda G.³⁶,Meavilla Olivas Silvia³⁷,Mention Karine³⁸,Mochel Fanny³⁹,Mundy Helen⁴⁰,Murphy Elaine⁴¹,Paquay Stephanie⁴²,Pedrón‐Giner Consuelo⁴³,Ruiz Gómez Maria Angeles⁴⁴,Santra Saikat⁴⁵,Schiff Manuel⁴⁶,Schwartz Ida Vanessa⁴⁷,Scholl‐Bürgi Sabine⁴⁸,Servais Aude⁴⁹,Skouma Anastasia⁵⁰,Tran Christel¹²,Vives Piñera Inmaculada⁵¹,Walter John⁸⁵²,Weisfeld‐Adams James⁵³,

Affiliation:

1. Division of Metabolism and Children's Research CenterUniversity Children's Hospital Zürich Switzerland

2. radiz—Rare Disease Initiative ZürichUniversity Zürich Zürich Switzerland

3. Department of PediatricsLandeskrankenhaus Bregenz Bregenz Austria

4. Division of MetabolismBambino Gesù Children's Hospital Rome Italy

5. Department of Internal MedicineVU Medical Center Amsterdam The Netherlands

6. Division of Child Neurology and Metabolic MedicineCentre for Child and Adolescent Medicine Heidelberg Germany

7. Department of Pediatrics and Adolescent MedicineCharles University—First Faculty of Medicine and General University Hospital Prague Czech Republic

8. Willink Metabolic Unit, Genomic MedicineManchester University Hospitals NHS Foundation Trust Manchester UK

9. Department of Biostatistics at Epidemiology, Biostatistics and Prevention InstituteUniversity Zürich Zürich Switzerland

10. Hospital Universitario Río Hortega Valladolid Spain

11. Department of Pediatrics, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München‐Nymphenburg Munich Germany

12. Center for Molecular DiseasesUniversity Hospital Lausanne Lausanne Switzerland

13. Sección de Gastroenterología y Nutrición PediátricaHospital Regional de Málaga Málaga Spain

14. Hospital Universitario Virgen del Rocío Sevilla Spain

15. Nutritional Support UnitUniversity Hospital Vall d'Hebron Barcelona Spain

16. University Department of PediatricsGiannina Gaslini Institute Genoa Italy

17. Centre de Référence des Maladies Héréditaires du MétabolismeCHU La Timone Enfants Marseille France

18. Children's National Rare Disease InstituteGenetics and Metabolism Washington, DC USA

19. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of PediatricsHospital Clínico Universitario de Santiago, CIBERERHealth Research Institute of Santiago de Compostela (IDIS) Santiago de Compostela Spain

20. National Centre for Inherited Metabolic DisordersTemple Street Children's University Hospital Dublin Ireland

21. Unidad de Nutrición y MetabolopatíasHospital Universitario La Fe Valencia Spain

22. Centro de Referência de Doencas Hereditárias do Metabolismo. Centro de Desenvolvimento da Criança ‐ Hospital Pediátrico ‐ Centro Hospitalar e Universitário De Coimbra Coimbra Portugal

23. Division of Human Genetics, The Children's Hospital of PhiladelphiaPerelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

24. Hospital Infantil Miguel Servet Zaragoza Spain

25. Universitary Hospital 12 Octubre Madrid Spain

26. Centro Academico de Medicina de Lisboa Lisbon Portugal

27. Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and MetabolismUniversity Children's Hospital and University Institute of Clinical Chemistry Inselspital Berne Switzerland

28. Department of PediatricsUniversity Hospital Marqués de Valdecilla, Universidad de Cantabria Santander Spain

29. Institute for Child HealthGreat Ormond Street HospitalUniversity College London London UK

30. Salford Royal NHS Foundation Trust Salford UK

31. Department of Internal MedicineRadboud University Medical Center Nijmegen The Netherlands

32. Department of PediatricsSalzburger Landeskliniken and Paracelsus Medical University Salzburg Austria

33. Department of Pediatrics and Adolescent MedicineMedical University Vienna Vienna Austria

34. Médecine Interne et Maladies VasculairesCentre Hospitalier Universitaire Angers Angers France

35. Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and PaediatricsCopenhagen University Hospital, Rigshospitalet Copenhagen Denmark

36. Reference Center for Inherited Metabolic DiseasesCentro Hospitalar do Porto Porto Portugal

37. Division of Gastroenterology, Hepatology and NutritionSant Joan de Déu Hospital Barcelona Spain

38. Hôpital Jeanne de Flandre Lille France

39. Reference Center for Adult Neurometabolic DiseasesUniversity Pierre and Marie Curie, La Pitié‐Salpêtrière University Hospital Paris France

40. Evelina London Children's Hospital London UK

41. Charles Dent Metabolic UnitNational Hospital for Neurology and Neurosurgery London UK

42. Pediatric Neurology and Metabolic diseases department, Université Catholique de Louvain, Cliniques Universitaires Saint‐Luc Brussels Belgium

43. Division of Gastroenterology and NutritionUniversity Children's Hospital Niño Jesús Madrid Spain

44. Metabolic Neuropediatric UnitUniversity Hospital Son Espases Palma de Mallorca Spain

45. Clinical Inherited Metabolic DisordersBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

46. Reference Center for Inherited Metabolic Diseases, AP‐HP, Robert Debré HospitalUniversity Paris Diderot‐Sorbonne Paris Cité and INSERM U1141 Paris France

47. Hospital de Clínicas de Porto Alegre and Department of GeneticsUniversidade Federal do Rio Grande do Sul Porto Alegre Brazil

48. Clinic for Pediatrics IInherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

49. Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP‐HPUniversity Paris Descartes Paris France

50. Agia Sofia Children's Hospital 1st Department of PediatricsUniversity of Athens Thivon & Levadias Athens Greece

51. Hospital Universitario Virgen de la Arrixaca El Palmar Spain

52. Department of Paediatrics, Bradford Royal Infirmary Bradford UK

53. Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and MetabolismUniversity of Colorado Denver Aurora Colorado

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12041

Reference48 articles.

1. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

2. Update and new concepts in vitamin responsive disorders of folate transport and metabolism

3. The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

4. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review;Orphanet Journal of Rare Diseases;2024-01-20

2. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024

3. Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability;eBioMedicine;2024-01

4. Biochemical, Nutritional, and Clinical Parameters of Vitamin B12 Deficiency in Infants: A Systematic Review and Analysis of 292 Cases Published between 1962 and 2022;Nutrients;2023-11-29

5. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?;Molecular Genetics and Metabolism;2023-11