Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

van Vliet, Kimber; van Ginkel, Willem G; Jahja, Rianne; Daly, Anne; MacDonald, Anita; Santra, Saikat; De Laet, Corinne; Goyens, Philippe J; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Gissen, Paul; Bierau, Jörgen; van Hasselt, Peter M; Wilcox, Gisela; Morris, Andrew A M; Jameson, Elisabeth A; de la Parra, Alicia; Arias, Carolina; Garcia, Maria I; Cornejo, Veronica; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; Huijbregts, Stephan C J; van Spronsen, Francjan J.

J Inherit Metab Dis ; 45(5): 952-962, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35722880

2.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Muntau, Ania C; Adams, Darius J; Bélanger-Quintana, Amaya; Bushueva, Tatiana V; Cerone, Roberto; Chien, Yin-Hsiu; Chiesa, Ana; Coskun, Turgay; de Las Heras, Javier; Feillet, François; Katz, Rachel; Lagler, Florian; Piazzon, Flavia; Rohr, Fran; van Spronsen, Francjan J; Vargas, Paula; Wilcox, Gisela; Bhattacharya, Kaustuv.

Mol Genet Metab ; 127(1): 1-11, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-31103398

3.

Impact of pregnancy on inborn errors of metabolism.

Wilcox, Gisela.

Rev Endocr Metab Disord ; 19(1): 13-33, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-30198059

4.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Palmer, Eleanor; Stepien, Karolina M; Campbell, Christopher; Barton, Stephanie; Iosifidis, Christos; Ghosh, Arunabha; Broomfield, Alexander; Woodall, Alison; Wilcox, Gisela; Sergouniotis, Panagiotis I; Black, Graeme C.

Orphanet J Rare Dis ; 18(1): 265, 2023 09 04.

Artículo en Inglés | MEDLINE | ID: mdl-37667371

5.

Fermentation of calcium-fortified soya milk does not appear to enhance acute calcium absorption in osteopenic post-menopausal women.

Cheung, Anne Lise Tang Fook; Wilcox, Gisela; Walker, Karen Z; Shah, Nagendra P; Strauss, Boyd; Ashton, John F; Stojanovska, Lily.

Br J Nutr ; 105(2): 282-6, 2011 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-20854699

6.

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.

Altman, George; Hussain, Kamran; Green, Diane; Strauss, Boyd J G; Wilcox, Gisela.

Orphanet J Rare Dis ; 16(1): 520, 2021 12 20.

Artículo en Inglés | MEDLINE | ID: mdl-34930395

7.

A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein Substitutes.

Daly, Anne; Högler, Wolfgang; Crabtree, Nicola; Shaw, Nick; Evans, Sharon; Pinto, Alex; Jackson, Richard; Ashmore, Catherine; Rocha, Júlio C; Strauss, Boyd J; Wilcox, Gisela; Fraser, William D; Tang, Jonathan C Y; MacDonald, Anita.

Nutrients ; 13(6)2021 Jun 17.

Artículo en Inglés | MEDLINE | ID: mdl-34204378

8.

A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials.

Burton, Barbara K; Skalicky, Anne; Baerwald, Christoph; Bilder, Deborah A; Harding, Cary O; Ilan, Aaron B; Jurecki, Elaina; Longo, Nicola; Madden, David T; Sivri, H Serap; Wilcox, Gisela; Thomas, Janet; Delaney, Kathleen.

Mol Genet Metab Rep ; 29: 100810, 2021 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34815941

9.

Growth and Body Composition in PKU Children-A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes.

Daly, Anne; Högler, Wolfgang; Crabtree, Nicola; Shaw, Nick; Evans, Sharon; Pinto, Alex; Jackson, Richard; Strauss, Boyd J; Wilcox, Gisela; Rocha, Júlio C; Ashmore, Catherine; MacDonald, Anita.

Nutrients ; 13(4)2021 Apr 16.

Artículo en Inglés | MEDLINE | ID: mdl-33923714

10.

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.

Pinto, Alex; Ashmore, Catherine; Batzios, Spyros; Daly, Anne; Dawson, Charlotte; Dixon, Marjorie; Evans, Sharon; Green, Diane; Gribben, Joanna; Hunjan, Inderdip; Jameson, Elisabeth; Newby, Camille; Pierre, Germaine; Rajwal, Sanjay; Robertson, Louise; Santra, Si; Sharrard, Mark; Vara, Roshni; White, Lucy; Wilcox, Gisela; Yilmaz, Ozlem; MacDonald, Anita.

Nutrients ; 12(11)2020 Oct 29.

Artículo en Inglés | MEDLINE | ID: mdl-33137944

11.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

van Vliet, Kimber; van Ginkel, Willem G; Jahja, Rianne; Daly, Anne; MacDonald, Anita; De Laet, Corinne; Vara, Roshni; Rahman, Yusof; Cassiman, David; Eyskens, Francois; Timmer, Corrie; Mumford, Nicky; Bierau, Jörgen; van Hasselt, Peter M; Gissen, Paul; Goyens, Philippe J; McKiernan, Patrick J; Wilcox, Gisela; Morris, Andrew A M; Jameson, Elisabeth A; Huijbregts, Stephan C J; van Spronsen, Francjan J.

Orphanet J Rare Dis ; 14(1): 285, 2019 12 04.

Artículo en Inglés | MEDLINE | ID: mdl-31801588

12.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Taylor, Rachel L; Handley, Mark T; Waller, Sarah; Campbell, Christopher; Urquhart, Jill; Meynert, Alison M; Ellingford, Jamie M; Donnelly, Deirdre; Wilcox, Gisela; Lloyd, I Chris; Mundy, Helen; FitzPatrick, David R; Deshpande, Charu; Clayton-Smith, Jill; Black, Graeme C.

Invest Ophthalmol Vis Sci ; 58(1): 594-603, 2017 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-28129423

13.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew Am; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C; Jones, Simon A; Banka, Siddharth.

Arch Dis Child ; 102(11): 1019-1029, 2017 11.

Artículo en Inglés | MEDLINE | ID: mdl-28468868

14.

Skeletal muscle mass in hospitalized elderly patients: comparison of measurements by single-frequency BIA and DXA.

Bosaeus, Ingvar; Wilcox, Gisela; Rothenberg, Elisabet; Strauss, Boyd J.

Clin Nutr ; 33(3): 426-31, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23827183

15.

Phytase activity from Lactobacillus spp. in calcium-fortified soymilk.

Tang, Anne Lise; Wilcox, Gisela; Walker, Karen Z; Shah, Nagandra P; Ashton, John F; Stojanovska, Lily.

J Food Sci ; 75(6): M373-6, 2010 Aug 01.

Artículo en Inglés | MEDLINE | ID: mdl-20722939

16.

Calcium absorption in Australian osteopenic post-menopausal women: an acute comparative study of fortified soymilk to cows' milk.

Tang, Anne Lise; Walker, Karen Z; Wilcox, Gisela; Strauss, Boyd J; Ashton, John F; Stojanovska, Lily.

Asia Pac J Clin Nutr ; 19(2): 243-9, 2010.

Artículo en Inglés | MEDLINE | ID: mdl-20460239

17.

A Comparison of Gait Patterns between Late-Onset Pompe Disease and Age-Matched Healthy Individuals: Does Late-Onset Pompe Disease have a Typical Gait Pattern?

Silk, Edward; Jones, Richard K; Hendriksz, Christian; Sharma, Reena; Jovanovic, Ana; Wilcox, Gisela; Baker, Richard J.

J Neuromuscul Dis ; 2(s1): S31, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-27858626

18.

Reply to Thibault & Genton:.

Bosaeus, Ingvar; Wilcox, Gisela; Rothenberg, Elisabet; Strauss, Boyd.

Clin Nutr ; 33(6): 1158-9, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25175756

19.

Beneficial effects of Lepidium meyenii (Maca) on psychological symptoms and measures of sexual dysfunction in postmenopausal women are not related to estrogen or androgen content.

Brooks, Nicole A; Wilcox, Gisela; Walker, Karen Z; Ashton, John F; Cox, Marc B; Stojanovska, Lily.

Menopause ; 15(6): 1157-62, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-18784609

20.

Insulin and insulin resistance.