Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Hugh Owen"'
Autor:
Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 76-88 (2021)
Abstract Background Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long‐term complications, mainly
Externí odkaz:
https://doaj.org/article/f9282f77401549bb87780cfc6729c8e5
Autor:
Hugh-Owen Colhoun, Estela M. 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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
Abstract Background Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist in treated patients de
Externí odkaz:
https://doaj.org/article/8c25fe5bb1824dfc8bba90b86d1ba3af
Autor:
Pauline M. Rudd, Hugh Owen Colhoun, Maria Fitzgibbon, Karolina M. Stepien, Marguerite MacMahon, Eileen P. Treacy, Roisin O'Flaherty
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 55:593-603
Background Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme. The pathophysiology of the long-term complications, mainly cognitive, neurolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa71882e0c055fe89b2ac91308abe17
https://doi.org/10.1177/0004563218762957
https://doi.org/10.1177/0004563218762957
Autor:
Treacy, Eileen P., Vencken, Sebastian, Bosch, Annet M., Gautschi, Matthias, Rubio‐Gozalbo, Estela, Dawson, Charlotte, Nerney, Darragh, Colhoun, Hugh Owen, Shakerdi, Loai, Pastores, Gregory M., O'Flaherty, Roisin, Saldova, Radka
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2021, Vol. 61 Issue 1, p76-88, 13p
Autor:
Peter Doran, Catherine Moss, Karen P. Coss, Ina Knerr, Pauline M. Rudd, Maria Fitzgibbon, M. Estela Rubio-Gozalbo, Henning Stöckmann, Kelly Stephens, Britt van Erven, Ashwini Maratha, Patricia Foley, Eileen P. Treacy, Hugh Owen Colhoun, Terri P. McVeigh
Publikováno v:
European Journal of Human Genetics, 24(7), 976-984. Nature Publishing Group
Classical galactosaemia (OMIM #230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68b6af6910e792024dadca0f421f1866
https://doi.org/10.1038/ejhg.2015.254
https://doi.org/10.1038/ejhg.2015.254
Autor:
Ina Knerr, Marie Galligan, Peter Doran, Charlotte Dawson, Eileen P. Treacy, Karolina M. Stepien, Catherine Moss, Hugh Owen Colhoun, Estela Rubio Gozalbo, P. Peter Barker, Annet M. Bosch, Maria Fitzgibbon, Roisin O'Flaherty, JJ Brady
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
Orphanet Journal of Rare Diseases, 13:164. BioMed Central Ltd
Orphanet Journal of Rare Diseases, 13:164. BioMed Central Ltd
Background: Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist in treated patients despite di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaddda4a3f803ce93dc2fccdf9d26162
https://doi.org/10.1186/s13023-018-0906-3
https://doi.org/10.1186/s13023-018-0906-3
Autor:
Colhoun, Hugh-Owen, Rubio Gozalbo, Estela M., Bosch, Annet M., Knerr, Ina, Dawson, Charlotte, Brady, Jennifer, Galligan, Marie, Stepien, Karolina, O'Flaherty, Roisin, Catherine Moss, C., Peter Barker, P., Fitzgibbon, Maria, Doran, Peter P., Treacy, Eileen P.
Publikováno v:
Orphanet journal of rare diseases, 13(1):164. BioMed Central
Background: Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist in treated patients despite di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::586dce900668c181e4288f075676c766
https://pure.amc.nl/en/publications/fertility-in-classical-galactosaemia-a-study-of-nglycan-hormonal-and-inflammatory-gene-interactions-11-medical-and-health-sciences-1103-clinical-sciences(ea6e73ec-09f5-4fc4-85c8-cf263a934517).html
https://pure.amc.nl/en/publications/fertility-in-classical-galactosaemia-a-study-of-nglycan-hormonal-and-inflammatory-gene-interactions-11-medical-and-health-sciences-1103-clinical-sciences(ea6e73ec-09f5-4fc4-85c8-cf263a934517).html
Autor:
Johanna H. van der Lee, Hugh Owen Colhoun, Lindsey Welling, Rebecca Holman, Susan E. Waisbren, Kevin M. Antshel, Matthias Gautschi, Annet M. Bosch, Eileen P. Treacy, Stephanie Grunewald
Publikováno v:
JIMD Reports ISBN: 9783662563588
JIMD reports, 37, 115-123. Springer Berlin
JIMD reports, 37, 115-123. Springer Berlin
INTRODUCTION Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2bd334ef4cf51de39ebe1cff36ac7d
https://doi.org/10.1007/8904_2017_22
https://doi.org/10.1007/8904_2017_22
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
JIMD Reports ISBN: 9783662555859
Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment op
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314ecac03a9b138a413ea204db0f5772
https://doi.org/10.1007/8904_2016_5
https://doi.org/10.1007/8904_2016_5