Results 91 to 100 of about 18,136 (230)

Phenylketonuria

open access: yesNature Reviews Disease Primers, 2021
F. Spronsen   +5 more
semanticscholar   +1 more source

Adaptive strategies of the candidate probiotic E. coli Nissle in the mammalian gut

open access: yesbioRxiv, 2018
Probiotics are living microorganisms that are increasingly used as gastrointestinal therapeutics by virtue of their innate or engineered genetic function.
Nathan Crook   +10 more
semanticscholar   +1 more source

New challenges in management of phenylketonuria in pregnancy: a case report. [PDF]

open access: yesJ Med Case Rep, 2023
Ugalde-Abiega B   +4 more
europepmc   +1 more source

Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. [PDF]

open access: bronze, 1993
D. P. Brenton   +18 more
openalex   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

open access: yesCell Proliferation, Volume 58, Issue 11, November 2025.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far   +4 more
wiley   +1 more source

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

open access: yesOrphanet Journal of Rare Diseases, 2015
BackgroundThe strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families.
A. Bosch   +7 more
semanticscholar   +1 more source

The effect of glycomacropeptide-based foods upon blood phenylalanine control in adults and children with phenylketonuria [PDF]

open access: yes, 2018
Conventional treatment for phenylketonuria restricts dietary phenylalanine to ‘control’ plasma phenylalanine concentrations. Its widespread adoption has largely eradicated the severe neurocognitive defects that previously characterised phenylketonuria ...
Thomson, Roderick
core  

Source Apportionment of Atmospheric Iron in Northern China Based on 3‐Year Continuous Measurements

open access: yesGeophysical Research Letters, Volume 52, Issue 20, 28 October 2025.
Abstract Atmospheric iron (Fe) impacts atmospheric chemistry and marine ecosystems. However, the scarcity of long‐term observations limits insights into its source variations that may reflect emission controls. From September 2016 to December 2019, Fe in atmospheric fine particles (PM2.5) was measured in Beijing.
Tianle Zhang   +13 more
wiley   +1 more source

Lanches salgados para adolescentes portadores de fenilcetonúria [PDF]

open access: yes, 2015
Monografia (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Nutrição, 2015.A dieta extremamente restrita da fenilcetonúria deve ser seguida ao longo de toda a vida.
Prado, Mariana
core  

¿Qué debe saber el pediatra de las hiperfenilalaninemias? [PDF]

open access: yes, 2015
ResumenLas hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina ...
Arias, Carolina   +8 more
core   +1 more source

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