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

M. Huemer; D. Diodato; B. Schwahn; M. Schiff; A. Bandeira; J.-F. Benoist; A. Burlina; R. Cerone; M.L. Couce; A. Garcia-Cazorla; G. la Marca; E. Pasquini; L. Vilarinho; J.D. Weisfeld-Adams; V. Kožich; H. Blom; M.R. Baumgartner; C. Dionisi-Vici

doi:10.1007/s10545-016-9991-4

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

M. Huemer, D. Diodato, B. Schwahn, M. Schiff, A. Bandeira, J.-F. Benoist, A. Burlina, R. Cerone, M.L. Couce, A. Garcia-Cazorla, G. la Marca, E. Pasquini, L. Vilarinho, J.D. Weisfeld-Adams, V. Kožich, H. Blom, M.R. Baumgartner, C. Dionisi-Vici

Istituto "Giannina Gaslini"

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

Original language	English
Pages (from-to)	21-48
Number of pages	28
Journal	Journal of Inherited Metabolic Disease
Volume	40
Issue number	1
DOIs	https://doi.org/10.1007/s10545-016-9991-4
Publication status	Published - 2017

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10.1007/s10545-016-9991-4

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Huemer, M., Diodato, D., Schwahn, B., Schiff, M., Bandeira, A., Benoist, J-F., Burlina, A., Cerone, R., Couce, M. L., Garcia-Cazorla, A., la Marca, G., Pasquini, E., Vilarinho, L., Weisfeld-Adams, J. D., Kožich, V., Blom, H., Baumgartner, M. R., & Dionisi-Vici, C. (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1), 21-48. https://doi.org/10.1007/s10545-016-9991-4

Huemer, M, Diodato, D, Schwahn, B, Schiff, M, Bandeira, A, Benoist, J-F, Burlina, A, Cerone, R, Couce, ML, Garcia-Cazorla, A, la Marca, G, Pasquini, E, Vilarinho, L, Weisfeld-Adams, JD, Kožich, V, Blom, H, Baumgartner, MR & Dionisi-Vici, C 2017, 'Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency', Journal of Inherited Metabolic Disease, vol. 40, no. 1, pp. 21-48. https://doi.org/10.1007/s10545-016-9991-4

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author = "M. Huemer and D. Diodato and B. Schwahn and M. Schiff and A. Bandeira and J.-F. Benoist and A. Burlina and R. Cerone and M.L. Couce and A. Garcia-Cazorla and {la Marca}, G. and E. Pasquini and L. Vilarinho and J.D. Weisfeld-Adams and V. Ko{\v z}ich and H. Blom and M.R. Baumgartner and C. Dionisi-Vici",

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T1 - Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

AU - Huemer, M.

AU - Diodato, D.

AU - Schwahn, B.

AU - Schiff, M.

AU - Bandeira, A.

AU - Benoist, J.-F.

AU - Burlina, A.

AU - Cerone, R.

AU - Couce, M.L.

AU - Garcia-Cazorla, A.

AU - la Marca, G.

AU - Pasquini, E.

AU - Vilarinho, L.

AU - Weisfeld-Adams, J.D.

AU - Kožich, V.

AU - Blom, H.

AU - Baumgartner, M.R.

AU - Dionisi-Vici, C.

N1 - Cited By :4 Export Date: 13 February 2018

PY - 2017

Y1 - 2017

U2 - 10.1007/s10545-016-9991-4

DO - 10.1007/s10545-016-9991-4

M3 - Article

VL - 40

SP - 21

EP - 48

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 1

ER -