Zobrazeno 1 - 10
of 151
pro vyhledávání: '"Eileen P Treacy"'
Autor:
Karolina M. Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O’Byrne
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study o
Externí odkaz:
https://doaj.org/article/d9cb3d6ea31b40e7beb5440463ba69fa
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 265-270 (2022)
Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β‐oxidation of long‐chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recur
Externí odkaz:
https://doaj.org/article/5cfd370f6a034b5f9ff9ce39b6e5540c
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
Publikováno v:
Metabolites, Vol 13, Iss 4, p 518 (2023)
Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways. These enzymatic defects lead to an accumulation of or
Externí odkaz:
https://doaj.org/article/7f61d42346c441df840758e56a9a1552
Autor:
Samantha Doyle, James J. O'Byrne, Mandy Nesbitt, Daniel N. Murphy, Zaza Abidin, Niall Byrne, Gregory Pastores, Richard Kirk, Eileen P. Treacy
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
Abstract Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by
Externí odkaz:
https://doaj.org/article/25a4e3334f0a44beb0e1c0c5f4d2778d
Autor:
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Publikováno v:
Human Reproduction Update, 29(2), 246-258. Oxford University Press
BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14071b42aecdf82f13075d179eabafb
https://doi.org/10.1093/humupd/dmac041
https://doi.org/10.1093/humupd/dmac041
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:
Karolina M. Stepien, Philomena McCarthy, Eileen P. Treacy, James J. O'Byrne, Gregory M. Pastores
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 31-35 (2018)
Background: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The cl
Externí odkaz:
https://doaj.org/article/1700f1f9f207485ebc6b1b6ba353d386
Autor:
Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical ou
Externí odkaz:
https://doaj.org/article/a06bd86a5c7e415885e733c80910623c