Results 71 to 80 of about 31,184 (250)

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core  

Nutritional evaluation of children with phenylketonuria [PDF]

, 1999
CONTEXT: Dietary phenylalanine (PA) restriction is the most effective form for reducing its excess in the blood and is the only efficient method for treating phenylketonuria.
Fisberg, Mauro, Fisberg, Regina Mara, Schmidt, Benjamim José, Silva-Fernandes, Maria Eugênia da   +3 more
core   +3 more sources

State-of-the-Art 2019 on Gene therapy for Phenylketonuria.

Human Gene Therapy, 2019
Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene therapy due to established alternative treatment.
H. M. Grisch-Chan, Gerald Schwank, C. Harding, B. Thony   +3 more
semanticscholar   +1 more source

Distribution Occurrence of Phenylketonuria in the World: A Systematic Review and Meta-Analysis [PDF]

Taṣvīr-i salāmat, 2016
​ Background and objectives : Phenylketonuria (PKU) is a metabolic error which is caused by the deficiency of phenylalanine hydroxylase (PAH) inverting phenylalanine to tyrosine. This disease is the most common form of hyperphenyalaninaemia stow which is
Parastoo Moradi, Behrooz Sari Sarraf, Zhila Khamnian, Roya Dolatkhah, Soraya Hadi, Dorna Ghafari, Saeid Dastgiri   +6 more
doaj  

QUANTITATIVE COMPOSITION OF ESSENTIAL L-AMINO ACIDS IN BLENDED THERAPEUTIC DIETARY PRODUCTS FOR PEOPLE WITH PHENYLKETONURIA

Вісник проблем біології і медицини, 2022
Phenylketonuria is one of the most common genetic diseases among the European population that manifests by increased blood phenylalanine content. It has been proven that diet therapy by restricting or excluding phenylalanine is vital for this group of ...
Kolinko L. M., Mishchenko I. V., Kokovskaya O. V.   +2 more
doaj   +1 more source

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Genetics in Medicine, 2018
Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range.
N. Longo, D. Dimmock, H. Levy, K. Viau, H. Bausell, D. Bilder, B. Burton, Christel Gross, H. Northrup, F. Rohr, Stephanie J. Sacharow, Amarilis Sanchez-Valle, M. Stuy, J. Thomas, J. Vockley, R. Zori, C. Harding   +16 more
semanticscholar   +1 more source

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Data in Brief, 2017
This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low ...
Bridget M. Stroup, Sangita G. Murali, Nivedita Nair, Emily A. Sawin, Fran Rohr, Harvey L. Levy, Denise M. Ney   +6 more
doaj  

A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

The Turkish Journal of Pediatrics, 2016
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum, Banu Anlar, H Serap Kalkanoğlu-Sivri, Kader Karlı-Oğuz, Şeniz Özusta, Fatih Ünal   +5 more
doaj   +1 more source

The influence of microbiome‐derived amino acids metabolites in shaping the glioma immunosuppressive microenvironment

Interdisciplinary Medicine, EarlyView.
Left: The disruption of the balance between carcinogenic bacteria and probiotics mediated by antibiotics, protein, and glucose intake. Middle: The gut microbiota‐derived amino acids, primarily through tryptophan, tyrosine, arginine, and branched‐chain amino acid pathways, regulate glioma development via mechanisms such as AHR activation, metabolic ...
Qianquan Ma, Zhihao Song, Chenlong Yang, Zijin Zhao, Guodong Tang, Jia You, Chong Zeng, Jun Yang, Qing Liu, Haoyu Li, Wei Huang   +10 more
wiley   +1 more source

Engineered strategies for the allergic disease therapy

Interdisciplinary Medicine, EarlyView.
Allergic diseases exist widely across the globe and now there are very limited therapeutics for the treatment of these diseases. In this review, we summarize the recent advances in engineering strategies including nanoemulsion and hydrogel to improve the therapeutic efficacy of allergen‐specific immunotherapy with decreased side effects and long‐term ...
Yun Tian, Xin Wu, Xiaoqi Sun, Lei Rong, Kai Han   +4 more
wiley   +1 more source