Zobrazeno 1 - 10
of 379
pro vyhledávání: '"phenylalanine hydroxylase deficiency"'
Autor:
Eva Venegas, Simone Langeveld, Kirsten Ahring, Rosa Benitez, An Desloovere, Elena Dios, Eva Gómez, Alvaro Hermida, Cyril Marsaux, Patrick Verloo, Maria-Luz Couce
Publikováno v:
Nutrients, Vol 16, Iss 16, p 2724 (2024)
A phenylalanine-restricted diet, supplemented with protein substitutes (PSs), remains the cornerstone of phenylketonuria (PKU) management. However, adherence is challenging in adulthood, and data on the nutritional status of early and continuously tr
Externí odkaz:
https://doaj.org/article/e564571ec8894c3598c2fd5174bb11c0
Akademický článek
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Autor:
Baitao Zeng, Qing Lu, Shaohong Chen, Huizhen Guan, Xiaolan Xu, Yongyi Zou, Feng Wang, Shuhui Huang, Yanqiu Liu, Bicheng Yang
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbanc
Externí odkaz:
https://doaj.org/article/9f13985710324df08bb812e70bd5beeb
Autor:
Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocogn
Externí odkaz:
https://doaj.org/article/3e44081e8a374ed68ac64f9082d1ee16
Autor:
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a
Externí odkaz:
https://doaj.org/article/987d7fbf49c347fabb187b5e6e98a4ba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Abstract Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive
Externí odkaz:
https://doaj.org/article/6dc44ebe087b41029b04082d0bba618c
Autor:
Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disord
Externí odkaz:
https://doaj.org/article/9d097e4c638b4c8a8a4eace21385bde5
Autor:
Cary O. Harding
Publikováno v:
Molecular Frontiers Journal, Vol 3, Iss 2, Pp 110-121 (2019)
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomin
Externí odkaz:
https://doaj.org/article/622da3411a0640b58436d37cc40b8155
Autor:
Amelie S. Lotz-Havla, Katharina Weiß, Katharina Schiergens, Stephanie Regenauer-Vandewiele, Klaus G. Parhofer, Tara Christmann, Luise Böhm, Joachim Havla, Esther M. Maier
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets. The objective of the present study was to
Externí odkaz:
https://doaj.org/article/dc53cab277ff4e09819fe14c49b08d4f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.