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

Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium

Please use this identifier to cite or link to this item: https://scholars.lib.ntu.edu.tw/handle/123456789/602271

Title:	Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Authors:	Ko?ich V. Sokolov? J. Morris A.A.M. Pavl?kov? M. Gleich F. K?lker S. Krijt J. Dionisi-Vici C. Baumgartner M.R. Blom H.J. Huemer M. Ald?miz-Echevarr?a L. Arantes R.R. Arrieta F. Blasco-Alonso J. Brouwers M. Brunner-Krainz M. Bueno M. Pel?ez R.B. Cano A. Couce M.-L. Crushell E. Ficicioglu C. Forny P. Garc?a Jim?nez M.C. Gaspar A. Gonz?lez-Lamu?o Leguina D. Chapman K.A. YIN-HSIU CHIEN Janssen M.C.H. Je?ina P. Lachmann R. Lavigne C. Lund A.M. L?sebrink N. Maillot F. Martins A.M. Olivas S.M. Mention K. Mochel F. Monavari A. Moreira S. Moreno C.A. Muacevic-Katanec D. Mundy H. Murphy E. Olivieri G. Paquay S. Pedr?n-Giner C. Quintana L.P. Porras-Hurtado G.L. Fraile P.Q. Redonnet-Vernhet I. Rennings A.J.M. Pons M.R. Santra S. Servais A. Schiaffino M.C. Schiff M. Schwahn B.C. Schwartz I.V.D. Sremba L.J. Stainforth C. Stepien K.M. Sykut-Cegielska J. Terry A. Tran C. Mi?ana I.V. Vives-Pi?era I. Williams M. Zeman J. Zielonka M. E-HOD consortium
Issue Date:	2021
Publisher:	John Wiley and Sons Inc
Journal Volume:	44
Journal Issue:	3
Start page/Pages:	677-692
Source:	Journal of Inherited Metabolic Disease
URI:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85102379217&doi=10.1002%2fjimd.12338&partnerID=40&md5=e8b969a756a1257e9a9d8aed39949fe0 https://scholars.lib.ntu.edu.tw/handle/123456789/602271
ISSN:	0141-8955
DOI:	10.1002/jimd.12338
Appears in Collections:	醫學系

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