Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

1. Kožich, V.
2. Sokolová, J.
3. Morris, A.A.M.
4. Pavlíková, M.
5. Gleich, F.
6. Kölker, S.
7. Krijt, J.
8. Dionisi-Vici, C.
9. Baumgartner, M.R.
10. Blom, H.J.
11. Huemer, M.
12. Aldámiz-Echevarría, L.
13. Arantes, R.R.
14. Arrieta, F.
15. Blasco-Alonso, J.
16. Brouwers, M.
17. Brunner-Krainz, M.
18. Bueno, M.
19. Peláez, R.B.
20. Cano, A.
21. Couce, M.-L.
22. Crushell, E.
23. Ficicioglu, C.
24. Forny, P.
25. García Jiménez, M.C.
26. Gaspar, A.
27. González-Lamuño Leguina, D.
28. Chapman, K.A.
29. Chien, Y.-H.
30. Janssen, M.C.H.
31. Ješina, P.
32. Lachmann, R.
33. Lavigne, C.
34. Lund, A.M.
35. Lüsebrink, N.
36. Maillot, F.
37. Martins, A.M.
38. Olivas, S.M.
39. Mention, K.
40. Mochel, F.
41. Monavari, A.
42. Moreira, S.
43. Moreno, C.A.
44. Muacevic-Katanec, D.
45. Mundy, H.
46. Murphy, E.
47. Olivieri, G.
48. Paquay, S.
49. Pedrón-Giner, C.
50. Quintana, L.P.
51. Porras-Hurtado, G.L.
52. Fraile, P.Q.
53. Redonnet-Vernhet, I.
54. Rennings, A.J.M.
55. Pons, M.R.
56. Santra, S.
57. Servais, A.
58. Schiaffino, M.C.
59. Schiff, M.
60. Schwahn, B.C.
61. Schwartz, I.V.D.
62. Sremba, L.J.
63. Stainforth, C.
64. Stepien, K.M.
65. Sykut-Cegielska, J.
66. Terry, A.
67. Tran, C.
68. Miñana, I.V.
69. Vives-Piñera, I.
70. Williams, M.
71. Zeman, J.
72. Zielonka, M.
73. Show all authors +

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DOI: 10.1002/JIMD.12338 GOOGLE SCHOLAR lock_openOpen access editor

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