Results 31 to 40 of about 18,327 (286)

The complete European guidelines on phenylketonuria: diagnosis and treatment

Orphanet Journal of Rare Diseases, 2017
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. V. Wegberg, A. Macdonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. Muntau, M. Rijn, F. Trefz, J. Walter, F. Spronsen   +18 more
semanticscholar   +1 more source

A noncoding RNA modulator potentiates phenylalanine metabolism in mice

Science, 2021
RNA solution for a genetic problem Phenylketonuria is a classic example of the benefit of newborn metabolic screening: It is a single-gene disease that can be detected at birth, and its neurological effects can be prevented by dietary therapy ...
Yajuan Li, Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, K. Liang, Yao Jun, Youqiong Ye, Yi-Chuan Li, Chunlai Li, L. Liao, Jianming Xu, Zhen Xing, Yinghong Pan, Sujash S. Chatterjee, Tina K. Nguyen, Heidi Hsiao, Sergey D Egranov, N. Putluri, C. Coarfa, D. Hawke, P. Gunaratne, K. Tsai, Leng Han, M. Hung, G. Calin, F. Namour, J. Guéant, A. Muntau, N. Blau, V. Sutton, M. Schiff, F. Feillet, Shuxing Zhang, Chunru Lin, Liuqing Yang   +35 more
semanticscholar   +1 more source

Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria [PDF]

, 2008
Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an ...
Arruda, Berraondo, Chen, Cho, Cristiano, Davidoff, Ding, Erlandsen, Eun-Sook Park, Fang, Gao, Gogu, Guttler, Hae-Young Park, Harding, Hoang, Hyun-Jeong Oh, Jacob, Jin-Ok Choi, Joo-Won Park, Jung, Koch, Koch, Kyung-In Seo, Lidsky, McDonald, Menkes, Mochizuki, Nagasaki, Nakai, Oh, Pietz, Saad, Schuettrumpf, Sung-Chul Jung, Zenclussen   +35 more
core   +2 more sources

Protein status in phenylketonuria:A scoping review [PDF]

, 2022
Background & aims: The physical and functional outcomes of lifelong treatment with a phenylalanine restricted diet for the management of Phenylketonuria (PKU) remain unknown.
Firman, Sarah J., O'Keeffe, Majella, Ramachandran, Radha, Whelan, Kevin, Witard, Oliver C.   +4 more
core   +2 more sources

PKU dietary handbook to accompany PKU guidelines

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. Macdonald, A. Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. Huijbregts, V. Leuzzi, F. Maillot, A. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. Spronsen   +17 more
semanticscholar   +1 more source

Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria

Journal of Inherited Metabolic Disease, 2021
Previous studies have suggested that cognitive and psychosocial underfunctioning in early‐treated adults with phenylketonuria (PKU) may be explained by suboptimal adherence to dietary treatments, however, these studies often employ small samples, with ...
Lynne Aitkenhead, G. Krishna, C. Ellerton, M. Moinuddin, J. Matcham, Lisha Shiel, Shasoty Hossain, Marianne J. Kiffin, Jennifer T. Foley, R. Skeath, M. Cleary, R. Lachmann, E. Murphy   +12 more
semanticscholar   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, R. Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, M. Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
semanticscholar   +1 more source

Protein Substitutes in PKU; Their Historical Evolution

Nutrients, 2021
Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid ...
A. Daly, S. Evans, A. Pinto, C. Ashmore, A. Macdonald   +4 more
semanticscholar   +1 more source

Análise de desempenho do Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, de 2005 a 2007 Performance analysis of the Rio de Janeiro State Neonatal Screening Program, 2005-2007

Cadernos de Saúde Pública, 2011
As diretrizes enfatizam o momento adequado para a coleta do teste de triagem neonatal entre o 3º e o 7º dias de vida, em 100% dos recém-natos. O tratamento do hipotireoidismo congênito e da fenilcetonúria iniciado até 2 semanas de vida é capaz de evitar ...
Judy Botler, Luiz Antonio Bastos Camacho, Marly Marques da Cruz   +2 more
doaj   +1 more source

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia Clinical aspects of phenylketonuria in a reference service for neonatal screening in Bahia

Revista Brasileira de Saúde Materno Infantil, 2005
OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia. MÉTODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com
Tatiana Amorim, Sara P.P. Gatto, Ney Boa-Sorte, Maria Efigênia Q. Leite, Maria Inês M. M. Fontes, Junaura Barretto, Angelina X. Acosta   +6 more
doaj   +1 more source