Results 21 to 30 of about 18,136 (230)

Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007–2015)

International Journal of Preventive Medicine, 2017
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
Ali Abbaskhanian, Daniel Zamanfar, Parvaneh Afshar, Einollah Asadpoor, Hamed Rouhanizadeh, Ali Jafarnia, Mohammad Shokzadeh   +6 more
doaj   +1 more source

Breastfeeding in infants diagnosed with phenylketonuria [PDF]

, 2022
Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the effects of breastfeeding (exclusive or partial) compared to low-Phe formula feeding in the first six months after birth in infants ...
Chadborn, Neil, Chong, Lydia, Kalvala, Jahnavi, Ojha, Shalini   +3 more
core   +2 more sources

Improvement of a synthetic live bacterial therapeutic for phenylketonuria with biosensor-enabled enzyme engineering

Nature Communications, 2021
In phenylketonuria (PKU) patients, a genetic defect in the enzyme phenylalanine hydroxylase (PAH) leads to elevated systemic phenylalanine (Phe), which can result in severe neurological impairment.
K. Adolfsen, Isolde Callihan, C. Monahan, Per Greisen, J. Spoonamore, M. Momin, L. Fitch, M. Castillo, Lindong Weng, L. Renaud, Carl J. Weile, Jay H. Konieczka, T. Mirabella, A. Abín-Fuentes, A. Lawrence, Vincent M. Isabella   +15 more
semanticscholar   +1 more source

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

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

Nature Communications, 2021
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.
Tyler Nelson, M. Charbonneau, Heidi G Coia, M. Castillo, Lt. Corey Holt, Eric S Greenwood, P. Robinson, E. Merrill, David Lubkowicz, C. Mauzy   +9 more
semanticscholar   +1 more source

Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]

, 2019
There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited.
Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Katharina, Gökmen-Özel, Hülya, Ilgaz, Fatma, Karabulut, Erdem, MacDonald, Anita, Pinto, Alex, Rocha, Júlio César, van Dam, Esther   +9 more
core   +2 more sources

Csontanyagcsere felnőtt phenylketonuriás pácienseknél – hazai adatok

, 2017
Absztrakt: Bevezetes: Nemzetkozi irodalmi adatokbol ismert, hogy a phenylketonurias paciensek csontsűrűsege csokkent az egeszseges populaciohoz kepest, ennek hattereben szamos tenyező allhat. Magyarorszagon mindeddig nem tortent atfogo felmeres a felnőtt
András Barta, Csaba Sumanszki, Péter Reismann   +2 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

Quality of Life and the Associated Psychological Factors in Caregivers of Children with PKU [PDF]

Iranian Journal of Psychiatry, 2011
"nObjectives: The main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with PKU.
Nargess Alirezaei, Saeedeh Mostafavi, Javad Mahmoudi-Gharaei   +2 more
doaj   +2 more sources

Quality of life in adults with phenylketonuria:a systematic review / Qualidade de vida em adultos com fenilcetonúria:uma revisão sistemática [PDF]

, 2022
Objective: To evaluate the quality of life of adults with phenylketonuria (PKU) using different methodologies. Methods: review developed according to PRISMA report items and the guidelines of the Cochrane Handbook for Systematic Reviews.
Haack, Adriana, Poubel, Monique
core