Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Hugh-Owen Colhoun; Maria Estela Rubio Gozalbo; Annet M. Bosch; Ina Knerr; Charlotte Dawson; Jennifer Brady; Marie Galligan; Karolina Stepien; Roisin O'Flaherty; C. Catherine Moss; P. Peter Barker; Maria Fitzgibbon; Peter P. Doran; Eileen P. Treacy

doi:10.1186/s13023-018-0906-3

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Hugh-Owen Colhoun, Maria Estela Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O'Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy^*

^*Corresponding author for this work

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

Original language	English
Article number	164
Number of pages	13
Journal	Orphanet Journal of Rare Diseases
Volume	13
DOIs	https://doi.org/10.1186/s13023-018-0906-3
Publication status	Published - 19 Sep 2018

Keywords

Classical galactosaemia
Infertility
Glycan modifier genes
PRIMARY OVARIAN INSUFFICIENCY
LEPTIN RECEPTOR
GLYCOSYLATION
EXPRESSION
CHILDREN
OUTCOMES
WOMEN
LONG
GALACTOSYLATION
COMPLICATIONS

Access to Document

10.1186/s13023-018-0906-3

https://doi.org/10.1186/s13023-018-0906-3

Cite this

Colhoun, H-O., Rubio Gozalbo, M. E., Bosch, A. M., Knerr, I., Dawson, C., Brady, J., Galligan, M., Stepien, K., O'Flaherty, R., Moss, C. C., Barker, P. P., Fitzgibbon, M., Doran, P. P., & Treacy, E. P. (2018). Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. Orphanet Journal of Rare Diseases, 13, [164]. https://doi.org/10.1186/s13023-018-0906-3

Colhoun, Hugh-Owen ; Rubio Gozalbo, Maria Estela ; Bosch, Annet M. ; Knerr, Ina ; Dawson, Charlotte ; Brady, Jennifer ; Galligan, Marie ; Stepien, Karolina ; O'Flaherty, Roisin ; Moss, C. Catherine ; Barker, P. Peter ; Fitzgibbon, Maria ; Doran, Peter P. ; Treacy, Eileen P. / Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13.

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title = "Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions",

keywords = "Classical galactosaemia, Infertility, Glycan modifier genes, PRIMARY OVARIAN INSUFFICIENCY, LEPTIN RECEPTOR, GLYCOSYLATION, EXPRESSION, CHILDREN, OUTCOMES, WOMEN, LONG, GALACTOSYLATION, COMPLICATIONS",

author = "Hugh-Owen Colhoun and {Rubio Gozalbo}, {Maria Estela} and Bosch, {Annet M.} and Ina Knerr and Charlotte Dawson and Jennifer Brady and Marie Galligan and Karolina Stepien and Roisin O'Flaherty and Moss, {C. Catherine} and Barker, {P. Peter} and Maria Fitzgibbon and Doran, {Peter P.} and Treacy, {Eileen P.}",

year = "2018",

month = sep,

day = "19",

doi = "10.1186/s13023-018-0906-3",

language = "English",

volume = "13",

journal = "Orphanet Journal of Rare Diseases",

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Colhoun, H-O, Rubio Gozalbo, ME, Bosch, AM, Knerr, I, Dawson, C, Brady, J, Galligan, M, Stepien, K, O'Flaherty, R, Moss, CC, Barker, PP, Fitzgibbon, M, Doran, PP & Treacy, EP 2018, 'Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions', Orphanet Journal of Rare Diseases, vol. 13, 164. https://doi.org/10.1186/s13023-018-0906-3

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions. / Colhoun, Hugh-Owen; Rubio Gozalbo, Maria Estela; Bosch, Annet M.; Knerr, Ina; Dawson, Charlotte; Brady, Jennifer; Galligan, Marie; Stepien, Karolina; O'Flaherty, Roisin; Moss, C. Catherine; Barker, P. Peter; Fitzgibbon, Maria; Doran, Peter P.; Treacy, Eileen P.

In: Orphanet Journal of Rare Diseases, Vol. 13, 164, 19.09.2018.

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

TY - JOUR

T1 - Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

AU - Colhoun, Hugh-Owen

AU - Rubio Gozalbo, Maria Estela

AU - Bosch, Annet M.

AU - Knerr, Ina

AU - Dawson, Charlotte

AU - Brady, Jennifer

AU - Galligan, Marie

AU - Stepien, Karolina

AU - O'Flaherty, Roisin

AU - Moss, C. Catherine

AU - Barker, P. Peter

AU - Fitzgibbon, Maria

AU - Doran, Peter P.

AU - Treacy, Eileen P.

PY - 2018/9/19

Y1 - 2018/9/19

KW - Classical galactosaemia

KW - Infertility

KW - Glycan modifier genes

KW - PRIMARY OVARIAN INSUFFICIENCY

KW - LEPTIN RECEPTOR

KW - GLYCOSYLATION

KW - EXPRESSION

KW - CHILDREN

KW - OUTCOMES

KW - WOMEN

KW - LONG

KW - GALACTOSYLATION

KW - COMPLICATIONS

U2 - 10.1186/s13023-018-0906-3

DO - 10.1186/s13023-018-0906-3

M3 - Article

VL - 13

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 164

ER -