Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Júlio C. Rocha"'
Autor:
Júlio C. Rocha, Álvaro Hermida, Cheryl J. Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh B. Whitehall, Kirsten K. Ahring, André L. S. Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, François Maillot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)
Abstract Background Lifelong management of phenylketonuria (PKU) centers on medical nutrition therapy, including dietary phenylalanine (Phe) restriction in addition to Phe-free or low-Phe medical foods/protein substitutes. Studies have reported low b
Externí odkaz:
https://doaj.org/article/15082e08da8b449cac44d28e7fa3df9c
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
Autor:
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-51 (2024)
Abstract Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary
Externí odkaz:
https://doaj.org/article/2dc70781578846fc93ab92e719142d46
Autor:
Anne Daly, Wolfgang Högler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Catherine Ashmore, Júlio C. Rocha, Boyd J. Strauss, Gisela Wilcox, William D. Fraser, Jonathan C. Y. Tang, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 6, p 2075 (2021)
In patients with phenylketonuria (PKU), treated by diet therapy only, evidence suggests that areal bone mineral density (BMDa) is within the normal clinical reference range but is below the population norm. Aims: To study longitudinal bone density, m
Externí odkaz:
https://doaj.org/article/a4126873ae3145c4a6503ccc32b5bd63
Autor:
Anne Daly, Wolfgang Högler, Nicola Crabtree, Nick Shaw, Sharon Evans, Alex Pinto, Richard Jackson, Boyd J. Strauss, Gisela Wilcox, Júlio C. Rocha, Catherine Ashmore, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 4, p 1323 (2021)
Protein quality and quantity are important factors in determining lean body (muscle) mass (LBM). In phenylketonuria (PKU), protein substitutes provide most of the nitrogen, either as amino acids (AA) or glycomacropeptide with supplementary amino acid
Externí odkaz:
https://doaj.org/article/75f9f9603abc4c6e897f9dcce552bf1e
Autor:
Maria Peres, Manuela F. Almeida, Élia J. Pinto, Carla Carmona, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Anita MacDonald, Júlio C. Rocha
Publikováno v:
Nutrients, Vol 13, Iss 3, p 799 (2021)
We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. Fifty-five PKU patients were analysed in the study perio
Externí odkaz:
https://doaj.org/article/85a7c00e31b24ae0bd074c814dbed16e
Autor:
Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrosp
Externí odkaz:
https://doaj.org/article/2716399a079545a68564e8b906898cdc
Autor:
Margreet van Rijn, Kirsten Ahring, Amaya Bélanger-Quintana, Kathi Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Júlio C. Rocha, Anita MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 85-88 (2015)
Lifelong low-phenylalanine (Phe) dietary management is the foundation of care in phenylketonuria (PKU). However, strict monitoring of food intake places a burden on patients and their caregivers, and adherence to the required diet frequently decrease
Externí odkaz:
https://doaj.org/article/722aa4ce7b7443189746219d1c9f4176
Publikováno v:
Química Nova, Vol 21, Iss 2, Pp 217-220 (1998)
Externí odkaz:
https://doaj.org/article/6fd384698f5b40139d3fc0f8971286bf
Publikováno v:
Química Nova, Vol 23, Iss 4, Pp 466-471 (2000)
Externí odkaz:
https://doaj.org/article/12f6aab927444f709badc73d9c463498
Autor:
Julio C. Rocha
Publikováno v:
Química Nova, Vol 26, Iss 5, Pp 782-782 (2003)
Externí odkaz:
https://doaj.org/article/90d00ef257da47a79c9083fc62a3165d