Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
- DOI
- 10.1186/s13023-018-0954-8
- Published
- 2018 Nov 26
- Container
- Orphanet journal of rare diseases
- Publisher
- Not recorded
- Open access
- yes
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limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-018-0954-8,
title = {Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.},
author = {Haskovic M and Derks B and van der Ploeg L and Trommelen J and Nyakayiru J and van Loon LJC and Mackinnon S and Yue WW and Peake RWA and Zha L and Demirbas D and Qi W and Huang X and Berry GT and Achten J and Bierau J and Rubio-Gozalbo ME and Coelho AI},
year = {2018},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/s13023-018-0954-8},
url = {https://doi.org/10.1186/s13023-018-0954-8}
}RIS
TY - JOUR TI - Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. AU - Haskovic M AU - Derks B AU - van der Ploeg L AU - Trommelen J AU - Nyakayiru J AU - van Loon LJC AU - Mackinnon S AU - Yue WW AU - Peake RWA AU - Zha L AU - Demirbas D AU - Qi W AU - Huang X AU - Berry GT AU - Achten J AU - Bierau J AU - Rubio-Gozalbo ME AU - Coelho AI PY - 2018 JO - Orphanet journal of rare diseases DO - 10.1186/s13023-018-0954-8 UR - https://doi.org/10.1186/s13023-018-0954-8 ER -
APA
M, H., B, D., L, V. D. P., J, T., J, N., LJC, V. L., S, M., WW, Y., RWA, P., L, Z., D, D., W, Q., X, H., GT, B., J, A., J, B., ME, R., & AI, C. (2018). Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-018-0954-8
Source records
- pubmed · retrieved 2026-09-26T15:21:59.986Z