@article{f4f7b0beff904c01ab63c5194ca6f039,
title = "Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia",
keywords = "Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, INBORN-ERRORS, URIDYLYLTRANSFERASE, PROTEINS",
author = "Minela Haskovic and Britt Derks and {van der Ploeg}, Liesbeth and Jorn Trommelen and Jean Nyakayiru and {van Loon}, {Luc J. C.} and Sabrina Mackinnon and Yue, {Wyatt W.} and Peake, {Roy W. A.} and Li Zha and Didem Demirbas and Wanshu Qi and Xiaoping Huang and Berry, {Gerard T.} and Jelle Achten and Joergen Bierau and Rubio-Gozalbo, {M. Estela} and Coelho, {Ana I.}",
year = "2018",
month = nov,
day = "26",
doi = "10.1186/s13023-018-0954-8",
language = "English",
volume = "13",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd",
}