Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Minela Haskovic; Britt Derks; Liesbeth van der Ploeg; Jorn Trommelen; Jean Nyakayiru; Luc J. C. van Loon; Sabrina Mackinnon; Wyatt W. Yue; Roy W. A. Peake; Li Zha; Didem Demirbas; Wanshu Qi; Xiaoping Huang; Gerard T. Berry; Jelle Achten; Joergen Bierau; M. Estela Rubio-Gozalbo; Ana I. Coelho

doi:10.1186/s13023-018-0954-8

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Joergen Bierau, M. Estela Rubio-Gozalbo^*, Ana I. Coelho

^*Corresponding author for this work

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

Original language	English
Article number	212
Number of pages	8
Journal	Orphanet Journal of Rare Diseases
Volume	13
DOIs	https://doi.org/10.1186/s13023-018-0954-8
Publication status	Published - 26 Nov 2018

Keywords

Classic galactosemia
Inherited metabolic disorder
Galactose metabolism
Arginine
Amino acid supplementation
Chemical chaperones
INBORN-ERRORS
URIDYLYLTRANSFERASE
PROTEINS

Access to Document

10.1186/s13023-018-0954-8

Cite this

Haskovic, M., Derks, B., van der Ploeg, L., Trommelen, J., Nyakayiru, J., van Loon, L. J. C., Mackinnon, S., Yue, W. W., Peake, R. W. A., Zha, L., Demirbas, D., Qi, W., Huang, X., Berry, G. T., Achten, J., Bierau, J., Rubio-Gozalbo, M. E., & Coelho, A. I. (2018). Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet Journal of Rare Diseases, 13, [212]. https://doi.org/10.1186/s13023-018-0954-8

Haskovic, Minela ; Derks, Britt ; van der Ploeg, Liesbeth ; Trommelen, Jorn ; Nyakayiru, Jean ; van Loon, Luc J. C. ; Mackinnon, Sabrina ; Yue, Wyatt W. ; Peake, Roy W. A. ; Zha, Li ; Demirbas, Didem ; Qi, Wanshu ; Huang, Xiaoping ; Berry, Gerard T. ; Achten, Jelle ; Bierau, Joergen ; Rubio-Gozalbo, M. Estela ; Coelho, Ana I. / Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13.

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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",

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Haskovic, M, Derks, B, van der Ploeg, L , Trommelen, J , Nyakayiru, J , van Loon, LJC, Mackinnon, S, Yue, WW, Peake, RWA, Zha, L, Demirbas, D, Qi, W, Huang, X, Berry, GT, Achten, J, Bierau, J , Rubio-Gozalbo, ME & Coelho, AI 2018, 'Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia', Orphanet Journal of Rare Diseases, vol. 13, 212. https://doi.org/10.1186/s13023-018-0954-8

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. / Haskovic, Minela; Derks, Britt; van der Ploeg, Liesbeth ; Trommelen, Jorn ; Nyakayiru, Jean ; van Loon, Luc J. C.; Mackinnon, Sabrina; Yue, Wyatt W.; Peake, Roy W. A.; Zha, Li; Demirbas, Didem; Qi, Wanshu; Huang, Xiaoping; Berry, Gerard T.; Achten, Jelle; Bierau, Joergen ; Rubio-Gozalbo, M. Estela; Coelho, Ana I.

In: Orphanet Journal of Rare Diseases, Vol. 13, 212, 26.11.2018.

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

TY - JOUR

T1 - Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

AU - Haskovic, Minela

AU - Derks, Britt

AU - van der Ploeg, Liesbeth

AU - Trommelen, Jorn

AU - Nyakayiru, Jean

AU - van Loon, Luc J. C.

AU - Mackinnon, Sabrina

AU - Yue, Wyatt W.

AU - Peake, Roy W. A.

AU - Zha, Li

AU - Demirbas, Didem

AU - Qi, Wanshu

AU - Huang, Xiaoping

AU - Berry, Gerard T.

AU - Achten, Jelle

AU - Bierau, Joergen

AU - Rubio-Gozalbo, M. Estela

AU - Coelho, Ana I.

PY - 2018/11/26

Y1 - 2018/11/26

KW - Classic galactosemia

KW - Inherited metabolic disorder

KW - Galactose metabolism

KW - Arginine

KW - Amino acid supplementation

KW - Chemical chaperones

KW - INBORN-ERRORS

KW - URIDYLYLTRANSFERASE

KW - PROTEINS

U2 - 10.1186/s13023-018-0954-8

DO - 10.1186/s13023-018-0954-8

M3 - Article

VL - 13

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 212

ER -