Results 71 to 80 of about 18,914 (186)
Adults with untreated Phenylketonuria: out of sight, out of mind?
, 2008 Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000).
Weetch, Eleanor +8 more
core +1 more source
Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award
Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley +1 more source
Photoreversible Polyurea Actuators With Spatiotemporal Control and Adaptive Mechanics
ENERGY &ENVIRONMENTAL MATERIALS, Volume 9, Issue 6, November 2026.A light–thermal responsive polyurea network incorporating reversibly dimerizable anthracene units enables spatiotemporal modulation of cross‐linking density and nearly 400‐fold stiffness tuning. Integrating programmable anisotropy, photopatterning, self‐healing, and photowelding within a single framework, this bioinspired “one network–multifunction ...
Zhiwen Song +7 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Advanced Science, Volume 13, Issue 58, 19 October 2026.Continuous molecular monitoring using electrochemical aptamer‐based sensors enables real‐time tracking of dynamic biomarkers with transformative potential for precision medicine. Achieving clinically relevant month‐long stability remains a central challenge due to multiple degradation pathways.
Shibo Liu, Xiangling Li, Wei Ouyang
wiley +1 more source
Psychical problems of people suffering from phenylketonuria
, 2017 The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis.
NENADÁLOVÁ, Lucie
core
Phenylketonuria management from an European perspective:A commentary
, 2010 Phenylketonuria is discussed from an European perspective, addressing the need of common definitions of terms commonly used, the need of a world-wide guideline on the diagnosis and treatment of phenylketonuria, the differences between existing European ...
van Spronsen, Francjan J. +1 more
core +1 more source
Why sleep assessment belongs in the memory clinic
Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.Abstract Sleep disturbances are highly prevalent in older adults and are particularly common among individuals attending memory clinics for assessment of cognitive impairment. Emerging evidence links sleep disorders, including insomnia, obstructive sleep apnea, circadian rhythm disruption, and rapid eye movement sleep behavior disorder, to cognitive ...
Anastasia Suraev +5 more
wiley +1 more source
Metabolic Structure: A Paradigm Revisited in Light of the Fundamental Parameters of Living Systems
BioEssays, Volume 48, Issue 10, October 2026.Metabolism is redefined as a dynamic thermodynamic field shaped by six fundamental parameters (time, water, entropy, quantum effects, space, and electrostatics) rather than fixed genetic architecture. Case studies from enzyme kinetics to cancer cell differentiation show metabolic states, not structure alone, determine flux and control, and can be ...
Jacques Fantini
wiley +1 more source
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The Turkish Journal of Pediatrics, 1993 The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç +5 more
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