Results 51 to 60 of about 2,204 (208)

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Orphanet Journal of Rare Diseases, 2021
Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi   +9 more
doaj   +1 more source

Living with Phenylketonuria: lessons from the PKU community [PDF]

, 2018
Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. Methods: In the UK, parents/
Antisdel, Archer, Bik-Multanowski, Bilder, Bilder, Bilder, Bilginsoy, Braun, Didycz, Eijgelshoven, Jurecki, MacDonald, MacDonald, Medical Research Council Working Party on Phenylketonuria, Mütze, Palermo, Romani, van Spronsen, Walter   +18 more
core   +1 more source

Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients:Does It Improve Outcomes? [PDF]

, 2022
Purpose: this systematic review aimed to assess the effects of dietary liberalization following tetrahydrobiopterin (BH4) treatment on anthropometric measurements, nutritional biomarkers, quality of life, bone density, mental health and psychosocial ...
Evers, Roeland A.F., Huijbregts, Stephan C.J., Leuzzi, Vincenzo, MacDonald, Anita, van Spronsen, Francjan J., van Wegberg, Annemiek M.J.   +5 more
core   +1 more source

Phenylketonuria: nutritional advances and challenges

Nutrition & Metabolism, 2012
Despite the appearance of new treatment, dietary approach remains the mainstay of PKU therapy. The nutritional management has become complex to optimize PKU patients' growth, development and diet compliance.
Giovannini Marcello, Verduci Elvira, Salvatici Elisabetta, Paci Sabrina, Riva Enrica   +4 more
doaj   +1 more source

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

Orphanet Journal of Rare Diseases, 2018
Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone.
Ania C. Muntau, Marcel du Moulin, Francois Feillet   +2 more
doaj   +1 more source

Additional file 2 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

, 2021
Additional file 2: Table S2. Blood Phe levels in patients with treatment-emergent hypophenylalaninaemia.
Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank   +12 more
openaire   +1 more source

Additional file 1 of Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at

, 2021
Additional file 1: Table S1. Status at the end of the extension period—ITTE population.
Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S., Lane, Paul, Alvarez, Ignacio, Rutsch, Frank   +12 more
openaire   +1 more source

Immunological impact of tetrahydrobiopterin on the central nervous system in a murine model of rabies virus infection

Revista do Instituto de Medicina Tropical de São Paulo, 2021
Currently, the Milwaukee protocol presents healing results in human beings affected by the rabies virus. However, there are many points to clarify on the action of drugs and the immune mechanism involved in the evolution of the disease.
Caio Vinicius Botelho Brito, Érika Dayane Leal Rodrigues, Fernanda Monik Silva Martins, Lavinia Dias Tavares, André Luis de Sousa Nogueira Lima, Lucas Carvalho Ferreira, Carlos Junior Lopes Santana, João Augusto Gomes de Souza Monteiro de Brito, Lívia Medeiros Neves Casseb, José Antonio Picanço Diniz Junior   +9 more
doaj   +1 more source

A Noncoding RNA Modulator Potentiates Phenylalanine Metabolism in Mice [PDF]

, 2021
The functional role of long noncoding RNAs (lncRNAs) in inherited metabolic disorders, including phenylketonuria (PKU), is unknown. We demonstrated that the mouse lncRNA Pair and human HULC associate with phenylalanine hydroxylase (PAH).
Blau, Nenad, Calin, George A, Chatterjee, Sujash S, Coarfa, Cristian, Egranov, Sergey D, Feillet, François, Gunaratne, Preethi H, Guéant, Jean-Louis, Han, Leng, Hawke, David H, Hsiao, Heidi, Hu, Qingsong, Hung, Mien-Chie, Jun, Yao, Li, Chunlai, Li, Yajuan, Li, Yi-Chuan, Liang, Ke, Liao, Lan, Lin, Chunru, Muntau, Ania C, Namour, Fares, Nguyen, Tina K, Pan, Yinghong, Putluri, Nagireddy, Schiff, Manuel, Sutton, V Reid, Tan, Zhi, Tsai, Kuang-Lei, Xing, Zhen, Xu, Jianming, Yang, Liuqing, Ye, Youqiong, Zhang, Shuxing, Zhang, Yaohua, Zhang, Zhao   +35 more
core   +2 more sources

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. [PDF]

, 2013
International audience; Fluctuations in blood phenylalanine concentrations may be an important determinant of intellectual outcome in patients with early and continuously treated phenylketonuria (PKU).
Bettiol, Esther, Blau, Nenad, Burlina, Alberto, Bélanger-Quintana, Amaya, Cleary, Maureen, Feillet, François, Gasteyger, Christoph, Giżewska, Maria, MacDonald, Anita, Muntau, Ania C., Trefz, Friedrich, van Spronsen, Francjan J.   +11 more
core   +2 more sources