Results 21 to 30 of about 17,994 (195)

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data. [PDF]

Mol Genet Metab Rep, 2021
Trefz F, Muntau AC, Schneider KM, et al. Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data. Molecular genetics and metabolism reports.
Trefz F, Muntau AC, Schneider KM, Altevers J, Jacob C, Braun S, Greiner W, Jha A, Jain M, Alvarez I, Lane P, Zeiss C, Rutsch F.   +12 more
europepmc   +2 more sources

Health Economic Impact of Patients With Phenylketonuria (PKU) in France – A Nationwide Study of Health Insurance Claims Data [PDF]

Molecular Genetics and Metabolism Reports
Christian Jacob, François Maillot
exaly   +2 more sources

New challenges in management of phenylketonuria in pregnancy: a case report

Journal of Medical Case Reports, 2023
Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening.
Beatriz Ugalde-Abiega, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta   +4 more
doaj   +1 more source

NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012 [PDF]

Romanian Journal of Pediatrics, 2013
Objective. To evaluate the Newborn Screening Program for rare diseases – congenital hypothyroidism (CH) and phenylketonuria (PKU) – in the north-east part of Romania from 2009 to 2012. Methods.
Dana-Teodora Anton-Paduraru, Maria-Liliana Iliescu   +1 more
doaj   +1 more source

Effect of Nutritional Intervention Program for Mothers on Health Parameters of Infant with Phenylketonuria [PDF]

Tanta Scientific Nursing Journal, 2023
Background: Phenylketonuria is a rare inborn inherited disorder of metabolism disease due to an autosomal recessive trait. The prevalence in Egypt is one case per 7,500.
Mona Ahmed El-Safty, Rahma Bahgat, Ebtisam El-sayed   +2 more
doaj   +1 more source

Intestinal peroxisome proliferator‐activated receptor α‐fatty acid‐binding protein 1 axis modulates nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan, Yuhong Luo, Nana Yan, Keisuke Hamada, Nan Zhao, Yangliu Xia, Ping Wang, Changdong Zhao, Dan Qi, Shoumei Yang, Lulu Sun, Jie Cai, Qiong Wang, Changtao Jiang, Oksana Gavrilova, Kristopher W. Krausz, Daxesh P. Patel, Xiaoting Yu, Xuan Wu, Haiping Hao, Weiwei Liu, Aijuan Qu, Frank J. Gonzalez   +22 more
wiley   +1 more source

Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

Journal of Craniomaxillofacial Research, 2020
This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body.
Mahsa Alavi Namvar, Sona Rafieyan, Behzad Fathi Afkari   +2 more
doaj   +1 more source

Gene therapy advancements in murine phenylketonuria (PKU) [PDF]

, 2023
The main focus of this dissertation work was to advance gene therapy research for phenylketonuria (PKU). PKU is an inborn error of metabolism characterized by phenylalanine hydroxylase (PAH) deficiency that results in severe neurological damage if left ...
Richards, Daelyn
core   +1 more source

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko (144194), Thiery, Joachim, Berthold Koletzko, Bruegel Mathias, Linda Kortz, Kiess Wieland, Beblo, Skadi, Kortz, Linda, Kortz Linda, Linda Kortz (144188), Wieland Kiess (102793), Uta Ceglarek (144203), Skadi Beblo (144186), Claudia Matthies (144191), Kiess, Wieland, Bruegel, Mathias, Mathias Bruegel (144197), Wieland Kiess, Beblo Skadi, Ulrike Mütze, Koletzko Berthold, Skadi Beblo, Ceglarek Uta, Ceglarek, Uta, Ulrike Mütze (144183), Joachim Thiery, Joachim Thiery (66414), Rohde, Carmen, Matthies, Claudia, Matthies Claudia, Rohde Carmen, Uta Ceglarek, Mütze, Ulrike, Koletzko, Berthold, Mathias Bruegel, Carmen Rohde, Carmen Rohde (144200), Thiery Joachim, Mütze Ulrike, Claudia Matthies   +39 more
core   +2 more sources

Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese

Journal of Inborn Errors of Metabolism and Screening, 2019
The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the health-related quality of life (HRQL) of patients and their caregivers.
Fabíola Vicente, Elaina Jurecki, Daniela Giovannetti, Ana Rita Ferreira, Efigênia Leite, Luciana Giugliani, Catherine Acquadro   +6 more
doaj   +1 more source