Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

M.M. Welsink-Karssies; S. Ferdinandusse; G.J. Geurtsen; C.E.M. Hollak; H.H. Huidekoper; M.C.H. Janssen; J.G. Langendonk; J.H. van der Lee; R. O'Flaherty; K.J. Oostrom; S.D. Roosendaal; M.E. Rubio-Gozalbo; R. Saldova; E.P. Treacy; F.M. Vaz; M.C. de Vries; M. Engelen; A.M. Bosch

doi:10.1093/braincomms/fcaa006

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

M.M. Welsink-Karssies, S. Ferdinandusse, G.J. Geurtsen, C.E.M. Hollak, H.H. Huidekoper, M.C.H. Janssen, J.G. Langendonk, J.H. van der Lee, R. O'Flaherty, K.J. Oostrom, S.D. Roosendaal, M.E. Rubio-Gozalbo, R. Saldova, E.P. Treacy, F.M. Vaz, M.C. de Vries, M. Engelen, A.M. Bosch

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

Original language	English
Article number	06
Number of pages	16
Journal	Brain Communications
Volume	2
Issue number	1
DOIs	https://doi.org/10.1093/braincomms/fcaa006
Publication status	Published - 1 Jan 2020

Keywords

children
classical galactosemia
clinical outcome
galt deficiency
glycan
igg n-glycosylation
management
mri
prognostic biomarkers
verbal dyspraxia
MANAGEMENT
MRI
IGG N-GLYCOSYLATION
GALT deficiency
CHILDREN
GLYCAN
VERBAL DYSPRAXIA

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10.1093/braincomms/fcaa006

Cite this

Welsink-Karssies, M. M., Ferdinandusse, S., Geurtsen, G. J., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., Langendonk, J. G., van der Lee, J. H., O'Flaherty, R., Oostrom, K. J., Roosendaal, S. D., Rubio-Gozalbo, M. E., Saldova, R., Treacy, E. P., Vaz, F. M., de Vries, M. C., Engelen, M., & Bosch, A. M. (2020). Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. Brain Communications, 2(1), [06]. https://doi.org/10.1093/braincomms/fcaa006

Welsink-Karssies, M.M. ; Ferdinandusse, S. ; Geurtsen, G.J. ; Hollak, C.E.M. ; Huidekoper, H.H. ; Janssen, M.C.H. ; Langendonk, J.G. ; van der Lee, J.H. ; O'Flaherty, R. ; Oostrom, K.J. ; Roosendaal, S.D. ; Rubio-Gozalbo, M.E. ; Saldova, R. ; Treacy, E.P. ; Vaz, F.M. ; de Vries, M.C. ; Engelen, M. ; Bosch, A.M. / Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. In: Brain Communications. 2020 ; Vol. 2, No. 1.

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title = "Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers",

keywords = "children, classical galactosemia, clinical outcome, galt deficiency, glycan, igg n-glycosylation, management, mri, prognostic biomarkers, verbal dyspraxia, MANAGEMENT, MRI, IGG N-GLYCOSYLATION, GALT deficiency, CHILDREN, GLYCAN, VERBAL DYSPRAXIA",

author = "M.M. Welsink-Karssies and S. Ferdinandusse and G.J. Geurtsen and C.E.M. Hollak and H.H. Huidekoper and M.C.H. Janssen and J.G. Langendonk and {van der Lee}, J.H. and R. O'Flaherty and K.J. Oostrom and S.D. Roosendaal and M.E. Rubio-Gozalbo and R. Saldova and E.P. Treacy and F.M. Vaz and {de Vries}, M.C. and M. Engelen and A.M. Bosch",

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month = jan,

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doi = "10.1093/braincomms/fcaa006",

language = "English",

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Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, HH, Janssen, MCH, Langendonk, JG, van der Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, SD, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, M & Bosch, AM 2020, 'Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers', Brain Communications, vol. 2, no. 1, 06. https://doi.org/10.1093/braincomms/fcaa006

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. / Welsink-Karssies, M.M.; Ferdinandusse, S.; Geurtsen, G.J.; Hollak, C.E.M.; Huidekoper, H.H.; Janssen, M.C.H.; Langendonk, J.G.; van der Lee, J.H.; O'Flaherty, R.; Oostrom, K.J.; Roosendaal, S.D.; Rubio-Gozalbo, M.E.; Saldova, R.; Treacy, E.P.; Vaz, F.M.; de Vries, M.C.; Engelen, M.; Bosch, A.M.

In: Brain Communications, Vol. 2, No. 1, 06, 01.01.2020.

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

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AU - Welsink-Karssies, M.M.

AU - Ferdinandusse, S.

AU - Geurtsen, G.J.

AU - Hollak, C.E.M.

AU - Huidekoper, H.H.

AU - Janssen, M.C.H.

AU - Langendonk, J.G.

AU - van der Lee, J.H.

AU - O'Flaherty, R.

AU - Oostrom, K.J.

AU - Roosendaal, S.D.

AU - Rubio-Gozalbo, M.E.

AU - Saldova, R.

AU - Treacy, E.P.

AU - Vaz, F.M.

AU - de Vries, M.C.

AU - Engelen, M.

AU - Bosch, A.M.

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KW - classical galactosemia

KW - clinical outcome

KW - galt deficiency

KW - glycan

KW - igg n-glycosylation

KW - management

KW - mri

KW - prognostic biomarkers

KW - verbal dyspraxia

KW - MANAGEMENT

KW - MRI

KW - IGG N-GLYCOSYLATION

KW - GALT deficiency

KW - CHILDREN

KW - GLYCAN

KW - VERBAL DYSPRAXIA

U2 - 10.1093/braincomms/fcaa006

DO - 10.1093/braincomms/fcaa006

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