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

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD)

doi:10.1002/jimd.12041

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

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD)

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	333-352
Number of pages	20
Journal	Journal of Inherited Metabolic Disease
Volume	42
Issue number	2
DOIs	https://doi.org/10.1002/jimd.12041
Publication status	Published - 2019

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10.1002/jimd.12041

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. / and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD).

In: Journal of Inherited Metabolic Disease, Vol. 42, No. 2, 2019, p. 333-352.

Research output: Contribution to journal › Article › peer-review

and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) 2019, 'Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry', Journal of Inherited Metabolic Disease, vol. 42, no. 2, pp. 333-352. https://doi.org/10.1002/jimd.12041

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

author = "{and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD)} and M. Huemer and D. Diodato and D. Martinelli and G. Olivieri and H. Blom and F. Gleich and S. K{\"o}lker and V. Ko{\v z}ich and A.A. Morris and B. Seifert and D.S. Froese and M.R. Baumgartner and C. Dionisi-Vici and C.A. Martin and M. Baethmann and D. Ballhausen and J. Blasco-Alonso and N. Boy and M. Bueno and {Burgos Pel{\'a}ez}, R. and R. Cerone and B. Chabrol and K.A. Chapman and M.L. Couce and E. Crushell and {Dalmau Serra}, J. and L. Diogo and C. Ficicioglu and {Garc{\'i}a Jimenez}, M.C. and {Garc{\'i}a Silva}, M.T. and A.M. Gaspar and M. Gautschi and D. Gonz{\'a}lez-Lamu{\~n}o and S. Gouveia and S. Gr{\"u}newald and C. Hendriksz and M.C.H. Janssen and P. Jesina and J. Koch and V. Konstantopoulou and C. Lavigne and A.M. Lund and E.G. Martins and {Meavilla Olivas}, S. and K. Mention and F. Mochel and H. Mundy and E. Murphy and S. Paquay and C. Pedr{\'o}n-Giner",

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AU - Huemer, M.

AU - Diodato, D.

AU - Martinelli, D.

AU - Olivieri, G.

AU - Blom, H.

AU - Gleich, F.

AU - Kölker, S.

AU - Kožich, V.

AU - Morris, A.A.

AU - Seifert, B.

AU - Froese, D.S.

AU - Baumgartner, M.R.

AU - Dionisi-Vici, C.

AU - Martin, C.A.

AU - Baethmann, M.

AU - Ballhausen, D.

AU - Blasco-Alonso, J.

AU - Boy, N.

AU - Bueno, M.

AU - Burgos Peláez, R.

AU - Cerone, R.

AU - Chabrol, B.

AU - Chapman, K.A.

AU - Couce, M.L.

AU - Crushell, E.

AU - Dalmau Serra, J.

AU - Diogo, L.

AU - Ficicioglu, C.

AU - García Jimenez, M.C.

AU - García Silva, M.T.

AU - Gaspar, A.M.

AU - Gautschi, M.

AU - González-Lamuño, D.

AU - Gouveia, S.

AU - Grünewald, S.

AU - Hendriksz, C.

AU - Janssen, M.C.H.

AU - Jesina, P.

AU - Koch, J.

AU - Konstantopoulou, V.

AU - Lavigne, C.

AU - Lund, A.M.

AU - Martins, E.G.

AU - Meavilla Olivas, S.

AU - Mention, K.

AU - Mochel, F.

AU - Mundy, H.

AU - Murphy, E.

AU - Paquay, S.

AU - Pedrón-Giner, C.

N1 - Cited By :4 Export Date: 10 February 2020

PY - 2019

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DO - 10.1002/jimd.12041

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VL - 42

SP - 333

EP - 352

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 2

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