Zobrazeno 1 - 10
of 502
pro vyhledávání: '"sapropterin"'
Autor:
Wirawan Adikusuma, Firdayani Firdayani, Lalu Muhammad Irham, Darmawi Darmawi, Muhammad Yulis Hamidy, Baiq Leny Nopitasari, Soraya Soraya, Nurul Azizah
Publikováno v:
Saudi Pharmaceutical Journal, Vol 31, Iss 12, Pp 101831- (2023)
Hemorrhoids are a prevalent medical condition that necessitates effective treatment options. The current options for treatment consist of oral medications, topical applications, or surgery, yet a scarcity of highly effective drugs still exists. Genet
Externí odkaz:
https://doaj.org/article/5932a7e71c6341c7918470e919f24f6d
Akademický článek
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Akademický článek
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Autor:
Maria Inês Gama, Anne Daly, Catherine Ashmore, Sharon Evans, André Moreira-Rosário, Júlio César Rocha, Anita MacDonald
Publikováno v:
Nutrients, Vol 15, Iss 16, p 3603 (2023)
Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sap
Externí odkaz:
https://doaj.org/article/b1eeaa2a889d46f88bdd9046a48edf9e
Autor:
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine acc
Externí odkaz:
https://doaj.org/article/93b917db1d7147fb934d0c76f2d07494
Autor:
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 10 (2022)
Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs. Affected patients encounter severe developm
Externí odkaz:
https://doaj.org/article/b39a30231cfa433d813f2863d36e1e7c
Autor:
Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase, tet
Externí odkaz:
https://doaj.org/article/63fd4568c46247219b22665cafdc58b9
Autor:
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen
Publikováno v:
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pr
Externí odkaz:
https://doaj.org/article/27ae186e9af64dbcabf115d039498845
Autor:
Maria Inês Gama, Sarah Adam, Sandra Adams, Heather Allen, Catherine Ashmore, Sarah Bailey, Barbara Cochrane, Clare Dale, Anne Daly, Giana De Sousa, Sarah Donald, Carolyn Dunlop, Charlotte Ellerton, Sharon Evans, Sarah Firman, Suzanne Ford, Francine Freedman, Moira French, Lisa Gaff, Joanna Gribben, Anne Grimsley, Ide Herlihy, Melanie Hill, Farzana Khan, Nicola McStravick, Chloe Millington, Nicola Moran, Camille Newby, Patty Nguyen, Janet Purves, Alex Pinto, Júlio César Rocha, Rachel Skeath, Amy Skelton, Simon Tapley, Alison Woodall, Carla Young, Anita MacDonald
Publikováno v:
Nutrients, Vol 14, Iss 23, p 4987 (2022)
Introduction: There is little practical guidance about suitable food choices for higher natural protein tolerances in patients with phenylketonuria (PKU). This is particularly important to consider with the introduction of adjunct pharmaceutical trea
Externí odkaz:
https://doaj.org/article/d155bdd26e7841369a35eb07d8e3785c
Autor:
Ulises Novoa, Karen Soto, Cristian Valdés, Jorge Villaseñor, Adriana V. Treuer, Daniel R. González
Publikováno v:
Biomedicines, Vol 10, Iss 10, p 2479 (2022)
Background: The effects of diabetes on the cardiovascular system as well as in the kidney are profound, which include hypertrophy and fibrosis. Diabetes also induces oxidative stress, at least in part due to the uncoupling of nitric oxide synthase (N
Externí odkaz:
https://doaj.org/article/631af6597d2849f384a4d2a9007f64cb