Results 61 to 70 of about 19,693 (207)

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, Wang Li, Xinru Guo, Rui Pu, Wenxin Wang, Yujun Cheng, Liang Shen, Fei Gao   +7 more
wiley   +1 more source

A Babysitters' Guide to PKU. [PDF]

, 1987
You are babysitting a child and there is a special restriction. The child has PKU and you have never before heard of that. PKU, stands for "phenylketonuria" This child's body cannot use protein foods which contain phenylalanine or "pine" the same way
M. Trahms, Cristine, Cox, Carla, Owen, Greg, Strom, Teresa, Luce, Pamela   +4 more
core   +1 more source

Randomized Phase II Trial of Consolidation Pembrolizumab After Definitive Chemoradiotherapy in Locally Advanced Nasopharyngeal Carcinoma: KCSG HN19‐09, CONPELAN Study

Head &Neck, Volume 48, Issue 11, Page 3103-3112, November 2026.
ABSTRACT Background The benefit of consolidation programmed cell death protein 1 (PD‐1) blockade after chemoradiotherapy in locoregionally advanced nasopharyngeal carcinoma (NPC) remains unclear. Methods Patients with stages II–IVB NPC were randomized (2:1) to pembrolizumab 200 mg or placebo every 3 weeks for up to 17 cycles after chemoradiotherapy ...
Sang Hoon Chun, Seyoung Seo, Jang Ho Cho, Keon‐Uk Park, Sang‐Cheol Lee, Yong Won Choi, Tak Yun, Seong Hoon Shin, Sung‐Bae Kim, Seungeun Lee, Chang Ho Ahn, Bhumsuk Keam   +11 more
wiley   +1 more source

Cognitive development in Ecuadorian children with PKU

, 2023
In this study, the association involving phenylketonuria (PKU) and cognitive deficits in Ecuadorian children is examined. PKU is a metabolic disorder that is brought on by variations in the PAH gene.
Navarrete Marcillo, Priscila Estefanía
core  

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis

Frontiers in Nutrition
IntroductionPhenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from phenylalanine hydroxylase deficiency, which impacts neurodevelopment.
Alex S. Aguirre, Edison Haro, Alberto Campodónico, Alissa Mendoza, Bernarda Bahamonde, Vanessa I. Romero   +5 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

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, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

How Does Feeding Development and Progression onto Solid Foods in PKU Compare with Non-PKU Children During Weaning?

, 2019
Weaning is complex for children with phenylketonuria (PKU). Breastmilk/infant formula and phenylalanine (Phe)-free infant protein-substitute (PS) are gradually replaced with equivalent amounts of Phe-containing food, a semi-solid/spoonable weaning PS and
Anita MacDonald, Catherine Ashmore, Barbara Cochrane, Sharon Evans, Jo Wildgoose, Satnam Chahal, Nik Loveridge, Anne Daly   +7 more
core   +1 more source

Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji

Slovenian Journal of Public Health, 2015
Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH).
Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampret Barbka, Murko Simona, Hojker Sergej, Battelino Tadej   +10 more
doaj   +1 more source

Demographic Features of Phenylketonuria (PKU) Patients, Sharkia Governorate, Egypt [PDF]

Zagazig University Medical Journal
Background: Phenylketonuria (PKU) is an autosomal recessive disease. Early diagnosis could act as an effectual public health intervention in order to prevent neurological impairments.
Wesam Mokhtar, Nermen Selim, Mona Abdelbaset, Soma Mohamed   +3 more
doaj   +1 more source