Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Una Hendroff"'
Autor:
British Inherited Metabolic Diseases Group (BIMDG) Dietitians Group, Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Moira French, Lisa Gaff, Cerys Gingell, Diane Green, Joanna Gribben, Anne Grimsley, Paula Hallam, Una Hendroff, Melanie Hill, Rachel Hoban, Sarah Howe, Inderdip Hunjan, Kit Kaalund, Eimear Kelleher, Farzana Khan, Steve Kitchen, Karen Lang, Sharan Lowry, Jo Males, Georgina Martin, Nicola McStravick, Avril Micciche, Camille Newby, Claire Nicol, Rachel Pereira, Louise Robertson, Kathleen Ross, Emma Simpson, Kath Singleton, Rachel Skeath, Jacqueline Stafford, Allyson Terry, Ruth Thom, Alison Tooke, Karen vanWyk, Fiona White, Lucy White, Anita MacDonald
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement, not allowed, or all
Externí odkaz:
https://doaj.org/article/cfce5ce9b749442bb1e426eafa5b982a
Autor:
Loai A. Shakerdi, Leonie Wallace, Georgina Smyth, Nora Madden, Anne Clark, Una Hendroff, Marianne McGovern, Sarah Connellan, Barbara Gillman, Eileen P. Treacy
Publikováno v:
Food sciencenutrition. 10(11)
Classical galactosemia (CG) is a disorder of galactose metabolism which results from deficiency of the enzyme galactose-1-phosphate uridylyl transferase (GALT). Treatment consists of immediately eliminating galactose from the diet in the new-born and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9b82af86f649a2ebcfc0989bc65a97
https://pubmed.ncbi.nlm.nih.gov/36348783
https://pubmed.ncbi.nlm.nih.gov/36348783
Autor:
Naveed Khawaja, Una Hendroff, Ciara McCormick, Eileen P. Treacy, Ingrid Borovickova, Gregory M. Pastores, Karolina M. Stepien, Patricia Fitzimons
Publikováno v:
JIMD Reports ISBN: 9783662580806
Glutaric aciduria type 1 (GA1) is an autosomal recessive rare disorder caused by mutations in the GCDH gene resulting in deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of the amino acids lysine, hydroxylysine and tryptophan and oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93e3f716c03668f310ee7a466d3dfbd7
https://europepmc.org/articles/PMC6122047/
https://europepmc.org/articles/PMC6122047/
Autor:
C. Stenson, Una Hendroff, M. O’Regan, J. Bracken, A. Agasarova, S. Doyle, Eileen P. Treacy, D. Deverell
Publikováno v:
JIMD Reports ISBN: 9783662578797
Adherence to dietary and treatment recommendations is a long-standing concern for adults and adolescents with PKU and treating clinicians. In about 20-30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The Europea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fa3cf7da0741fc9c40b086a4687498
https://doi.org/10.1007/8904_2017_63
https://doi.org/10.1007/8904_2017_63
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
Autor:
Radka Saldova, Eileen P. Treacy, Pauline M. Rudd, C. Carolan, A.Y. Brown, Una Hendroff, Barbara Adamczyk, Jodie L. Abrahams, O. Walsh, Karen P. Coss, Dave Coman, J.C. Byrne
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism; Vol 105
Molecular Genetics and Metabolism; Vol 105
N-glycan processing and assembly defects have been demonstrated in untreated and partially treated patients with Classical Galactosaemia. These defects may contribute to the ongoing pathophysiology of this disease. The aim of this study was to develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92eaefb0dfd064119bc1e60e212777c
Autor:
Ahmad Monavari, Una Hendroff, Anne Clark, Joanne Hughes, Olivia Geoghegan, Yvonne Rogers, Stephanie Ryan, Deborah M. Lambert, Eilish Twomey, Eileen P. Treacy
Publikováno v:
The Journal of pediatrics. 154(5)
To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactosemia (McKusick 230400), an autosomal recessive disorder of carbohydrate metabolism and galactose-1-phosphate uridyltransferase (GALT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52397ad43d96fea16fd970704f48a521
https://pubmed.ncbi.nlm.nih.gov/19181333
https://pubmed.ncbi.nlm.nih.gov/19181333