Results 71 to 80 of about 17,994 (195)

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry

Molecular Genetics and Metabolism Reports
Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring.
Aileen Kenneson, Margite I. Borth, Rani H. Singh   +2 more
doaj   +1 more source

Quality of Life and Adherence to Treatment in Patients with Phenylketonuria in the Federal District - Brazil [PDF]

Psicologia: Teoria e Pesquisa
In phenylketonuria (PKU), low adherence to treatment is associated with poor health-related quality of life (HRQoL). The HRQoL of 51 patients with PKU was examined using the PKU-QOL questionnaires, correlating them to two indicators of adherence to ...
Adriana Haack, Monique Poubel
doaj   +2 more sources

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

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

Executive function in adolescents with PKU and their siblings: Associations with biochemistry [PDF]

, 2015
Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in ...
R. Young, R. Sharman, McGill, J., K. Sullivan, Sullivan, K, Young, R., Sharman, R, Young, R, McGill, J, J. McGill, Sharman, R., Sullivan, K.   +11 more
core   +1 more source

Continuous Molecular Monitoring Using Electrochemical Aptamer‐Based Sensors: Remaining Challenges for Long‐Term In Vivo Deployment

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

The financial and time burden associated with phenylketonuria treatment in the United States

Molecular Genetics and Metabolism Reports, 2019
Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose, Scott D. Grosse, Sandra P. Garcia, Janice Bach, Mary Kleyn, Norma-Jean E. Simon, Lisa A. Prosser   +6 more
doaj   +1 more source

Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU)

, 2016
Context: Phenylketonuria (PKU) is the most common hereditary defect of phenylalanine hydroxylase (PAH) enzyme achieving the hydroxylation of phenylalanine (Phe). Phenylalanine ammonia lyase (PAL) converts Phe to a harmless metabolite, trans-cinnamic acid
Babaoğlu Aydaş, S., Sirin, Seda, Aslim, B., Babaoğlu Aydaş, Seniha Selcen, Aslım, Belma, Şirin, S.   +5 more
core   +1 more source

Early feeding practices in infants with phenylketonuria across Europe

, 2021
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe ...
Cochrane, B., Slabbert, A., Corthouts, K., Didycz, B., van Wegberg, A. M. J., Rosenbaum-Fabian, S., Bruni, G., Liguori, A., Joerg-Streller, M., Belanger Quintana, A., Rossi, A., Jung, A., Skeath, R., Lilje, R., Tooke, A., Och, U., Zolkowska, J., Ekengren, J., Bontemps, C., Evans, S., Joost, C., Jardim, I., Velez Garcia, V., Rocha, J. C., Pedron-Giner, C., Forssell, E., Kumru, B., Lang, K., Drabik, J., Dunlop, C., Barrio-Carreras, D., Meneses, C., Kozanoglu, T., Winkler, T., Goncalves, C., Gutierrez-Sanchez, A., Vasconcelos, C., Rohde, C., Mexia, S., Skarpalezou, A., Robertson, L., De Meyer, A., Daly, A., Liegeois, I., Zuvadelli, J., Errekalde, I., Grimsley, A., Olivas, S. M., Desloovere, A., Dokoupil, K., Kanthe, M., Almeida, M. F., Schlune, A., Vande Kerckhove, K., Assoun, M., Bueno-Delgado, M., Saligova, J., Schulpis, K., Koc, N., Reinson, K., Bernabei, S. M., Manta-Vogli, P., Ruiz, M., Ozel, H. Gokmen, Terry, A., van Wyk, K., Lang, F., Chyz, K., Francois, L., Jouault, C., Arslan, N., Adams, S., Eftring, K., Nicol, C., De Leo, S., Robert, M., MacDonald, A., Serrano-Nieto, J., Ahring, K., Foucart, A., Kok, I. L., Allen, H., Newby, C., Garcia-Arenas, D., Fokkema, L., French, M., Lubina, O., Pereira, R., Tuokkola, J., Plutowska-Hoffmann, K., Carvalho, R., De Theux, A., Boyle, F., Purves, J., Eberle-Pelloth, W., Chrobot, A., Gyure, E., Van Driessche, M., Altinok, Y. Atik, Caine, G., van der Ploeg, E. M. C., Mayr, D., Dionigi, A. Re, Wildgoose, J., Meyer, U., Thom, R., van den Hurk, T. A. M., Correia, C., Gugelmo, G., Heller, C., Dijsselhof, M. E., Hensler, R., Gizewska, M., van Dam, E., Gingell, C., Straczek, K., Pinto, A.   +116 more
core   +1 more source