Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels

Autor: Jèssica Pardo, Clara Capdevila-Lacasa, Bàrbara Segura, Adriana Pané, Cristina Montserrat, Maria de Talló Forga-Visa, Pedro J. Moreno, Glòria Garrabou, Josep M. Grau-Junyent, Carme Junqué, Consortium PKU.cat.

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-10 (2024)

Abstract Background Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in so

Externí odkaz: https://doaj.org/article/4f3498e30bf8453e8ed74672f3c58a4a

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Characterization of an engineered live bacterial therapeutic for the treatment of phenylketonuria in a human gut-on-a-chip

Autor: Elaine A. Merrill, Peter J Robinson, Camilla A Mauzy, Heidi G. Coia, Corey Holt, Eric S. Greenwood, Mark R. Charbonneau, Mary Castillo, David Lubkowicz, M. Tyler Nelson

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications

Engineered bacteria (synthetic biotics) represent a new class of therapeutics that leverage the tools of synthetic biology. Translational testing strategies are required to predict synthetic biotic function in the human body. Gut-on-a-chip microfluid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c4264fa5a0d61486826735ca39438e
https://doaj.org/article/229bd7533d5f4591b5fea3903111b0fd

Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia

Autor: Elisabetta Salvatici, S. Paci, Raed Selmi, Giuseppe Banderali, Valentina Rovelli, Alice Re Dionigi, Vittoria Ercoli, Juri Zuvadelli, Graziella Cefalo

Publikováno v: Healthcare
Volume 9
Issue 11
Healthcare, Vol 9, Iss 1407, p 1407 (2021)

Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the PAH gene resulting in increased blood phenylalanine (Phe) concentrations. Depending on the Phe levels, a lifelong dietary intervention

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcb2c0695c3225c6733161377e8268fb
https://pubmed.ncbi.nlm.nih.gov/34828453

Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

Autor: Hulya Gokmen-Ozel, Esther van Dam, Amaya Belanger-Quintana, Fran Rohr, Alexandra Jung, Júlio César Rocha, Laurie Bernstein, Anita MacDonald, Heather Bausell, Margret Heddrich-Ellerbrok

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100771-(2021)
Molecular genetics and metabolism reports, 28:100771. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Funding Information: Outside the submitted work, the authors disclose the following. Bausell H received personal fees from BioMarin, Ultragenyx, Horizon and Vitaflo. Bélanger-Quintana A reports personal fees from BioMarin, Nutricia, Vitaflo, Orphan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7938b8f45f942ba77838bd72abd58add
http://www.sciencedirect.com/science/article/pii/S2214426921000653