The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

M.M. Welsink-Karssies; D. van Harskamp; S. Ferdinandusse; C.E.M. Hollak; H.H. Huidekoper; M.C.H. Janssen; E.M. Kemper; J.G. Langendonk; M.E. Rubio-Gozalbo; M.C. de Vries; F.A. Wijburg; H. Schierbeek; A.M. Bosch

doi:10.1002/jimd.12207

The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

M.M. Welsink-Karssies, D. van Harskamp, S. Ferdinandusse, C.E.M. Hollak, H.H. Huidekoper, M.C.H. Janssen, E.M. Kemper, J.G. Langendonk, M.E. Rubio-Gozalbo, M.C. de Vries, F.A. Wijburg, H. Schierbeek, A.M. Bosch

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

Original language	English
Pages (from-to)	507-517
Number of pages	11
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	3
DOIs	https://doi.org/10.1002/jimd.12207
Publication status	Published - 1 May 2020

Keywords

(co2)-c-13
c-13
galactose oxidation
inborn error of metabolism
isotope ratio mass spectrometry
oxidation
OXIDATION
C-13
(CO2)-C-13

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10.1002/jimd.12207

Cite this

Welsink-Karssies, M. M., van Harskamp, D., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., Kemper, E. M., Langendonk, J. G., Rubio-Gozalbo, M. E., de Vries, M. C., Wijburg, F. A., Schierbeek, H., & Bosch, A. M. (2020). The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes. Journal of Inherited Metabolic Disease, 43(3), 507-517. https://doi.org/10.1002/jimd.12207

Welsink-Karssies, M.M. ; van Harskamp, D. ; Ferdinandusse, S. ; Hollak, C.E.M. ; Huidekoper, H.H. ; Janssen, M.C.H. ; Kemper, E.M. ; Langendonk, J.G. ; Rubio-Gozalbo, M.E. ; de Vries, M.C. ; Wijburg, F.A. ; Schierbeek, H. ; Bosch, A.M. / The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes. In: Journal of Inherited Metabolic Disease. 2020 ; Vol. 43, No. 3. pp. 507-517.

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title = "The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes",

keywords = "(co2)-c-13, c-13, galactose oxidation, inborn error of metabolism, isotope ratio mass spectrometry, oxidation, OXIDATION, C-13, (CO2)-C-13",

author = "M.M. Welsink-Karssies and {van Harskamp}, D. and S. Ferdinandusse and C.E.M. Hollak and H.H. Huidekoper and M.C.H. Janssen and E.M. Kemper and J.G. Langendonk and M.E. Rubio-Gozalbo and {de Vries}, M.C. and F.A. Wijburg and H. Schierbeek and A.M. Bosch",

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doi = "10.1002/jimd.12207",

language = "English",

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Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, HH, Janssen, MCH, Kemper, EM, Langendonk, JG, Rubio-Gozalbo, ME, de Vries, MC, Wijburg, FA, Schierbeek, H & Bosch, AM 2020, 'The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes', Journal of Inherited Metabolic Disease, vol. 43, no. 3, pp. 507-517. https://doi.org/10.1002/jimd.12207

The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes. / Welsink-Karssies, M.M.; van Harskamp, D.; Ferdinandusse, S.; Hollak, C.E.M.; Huidekoper, H.H.; Janssen, M.C.H.; Kemper, E.M.; Langendonk, J.G.; Rubio-Gozalbo, M.E.; de Vries, M.C.; Wijburg, F.A.; Schierbeek, H.; Bosch, A.M.

In: Journal of Inherited Metabolic Disease, Vol. 43, No. 3, 01.05.2020, p. 507-517.

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

TY - JOUR

T1 - The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

AU - Welsink-Karssies, M.M.

AU - van Harskamp, D.

AU - Ferdinandusse, S.

AU - Hollak, C.E.M.

AU - Huidekoper, H.H.

AU - Janssen, M.C.H.

AU - Kemper, E.M.

AU - Langendonk, J.G.

AU - Rubio-Gozalbo, M.E.

AU - de Vries, M.C.

AU - Wijburg, F.A.

AU - Schierbeek, H.

AU - Bosch, A.M.

PY - 2020/5/1

Y1 - 2020/5/1

KW - (co2)-c-13

KW - c-13

KW - galactose oxidation

KW - inborn error of metabolism

KW - isotope ratio mass spectrometry

KW - oxidation

KW - OXIDATION

KW - C-13

KW - (CO2)-C-13

U2 - 10.1002/jimd.12207

DO - 10.1002/jimd.12207

M3 - Article

VL - 43

SP - 507

EP - 517

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

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ER -