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

MM Welsink-Karssies; D van Harskamp; S Ferdinandusse; CEM Hollak; Hidde Huidekoper; MCH Janssen; EM Kemper; Janneke Langendonk; ME Rubio-Gozalbo; MC de Vries; FA Wijburg; H Schierbeek; AM 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

MM Welsink-Karssies, D van Harskamp, S Ferdinandusse, CEM Hollak, Hidde Huidekoper, MCH Janssen, EM Kemper, Janneke Langendonk, ME Rubio-Gozalbo, MC de Vries, FA Wijburg, H Schierbeek, AM Bosch

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

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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 - 2020

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Welsink-Karssies, MM., van Harskamp, D., Ferdinandusse, S., Hollak, CEM., Huidekoper, H., Janssen, MCH., Kemper, EM., Langendonk, J., 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, 43(3), 507-517. https://doi.org/10.1002/jimd.12207

Welsink-Karssies, MM ; van Harskamp, D ; Ferdinandusse, S ; Hollak, CEM ; Huidekoper, Hidde ; Janssen, MCH ; Kemper, EM ; Langendonk, Janneke ; Rubio-Gozalbo, ME ; de Vries, MC ; Wijburg, FA ; Schierbeek, H ; Bosch, AM. / 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",

author = "MM Welsink-Karssies and {van Harskamp}, D and S Ferdinandusse and CEM Hollak and Hidde Huidekoper and MCH Janssen and EM Kemper and Janneke Langendonk and ME Rubio-Gozalbo and {de Vries}, MC and FA Wijburg and H Schierbeek and AM Bosch",

year = "2020",

doi = "10.1002/jimd.12207",

language = "English",

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pages = "507--517",

journal = "Journal of Inherited Metabolic Disease",

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Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, H, Janssen, MCH, Kemper, EM, Langendonk, J, 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, MM; van Harskamp, D; Ferdinandusse, S; Hollak, CEM; Huidekoper, Hidde; Janssen, MCH; Kemper, EM; Langendonk, Janneke; Rubio-Gozalbo, ME; de Vries, MC; Wijburg, FA; Schierbeek, H; Bosch, AM.

In: Journal of Inherited Metabolic Disease, Vol. 43, No. 3, 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, MM

AU - van Harskamp, D

AU - Ferdinandusse, S

AU - Hollak, CEM

AU - Huidekoper, Hidde

AU - Janssen, MCH

AU - Kemper, EM

AU - Langendonk, Janneke

AU - Rubio-Gozalbo, ME

AU - de Vries, MC

AU - Wijburg, FA

AU - Schierbeek, H

AU - Bosch, AM

PY - 2020

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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 -