Results 101 to 110 of about 104,062 (224)

Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions

Journal of Multidisciplinary Healthcare, 2022
Sudipt Kumar Dalei, Nidhi Adlakha Regional Center for Biotechnology, NCR Biotech Science Cluster, Faridabad, Haryana, IndiaCorrespondence: Nidhi Adlakha Email nidhi.adlakha@rcb.res.inAbstract: In the category of rare inherited genetic disorders ...
Kumar Dalei S, Adlakha N
doaj  

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Junfei Cao, Lennart Kruizinga, Iris B. Hovens, Els van der Goot, Robbert Havekes, Eddy A. van der Zee   +5 more
wiley   +1 more source

Phenylketonuria and glycogen storage disease type III in sibs of one family

The Turkish Journal of Pediatrics, 2002
Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin.
Tuncay Yilmazer, Albert H Van Gennip, Nico G G M Abeling, Imran Ozalp, Turgay Coşkun, Henk D Bakker   +5 more
doaj  

A unique dual activity amino acid hydroxylase in Toxoplasma gondii.

PLoS ONE, 2009
The genome of the protozoan parasite Toxoplasma gondii was found to contain two genes encoding tyrosine hydroxylase; that produces L-DOPA. The encoded enzymes metabolize phenylalanine as well as tyrosine with substrate preference for tyrosine.
Elizabeth A Gaskell, Judith E Smith, John W Pinney, Dave R Westhead, Glenn A McConkey   +4 more
doaj   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

A Perspective of Soy Isoflavones on Analytical, Biological, and Chemical Attributes

Legume Science, Volume 8, Issue 3, September 2026.
ABSTRACT This review covers key aspects of soybean (Glycine max), with a particular focus on its isoflavone content and biological properties. Soybeans maintain their position as both a nutraceutical and a pharmaceutical crop, with a broad range of dietary items used worldwide, including soy milk, fermented soy products, and various dietary supplements.
Sristy Suman, Joydeep Chatterjee, Gaurav Joshi, Raj Kumar, Muhammad Wahajuddin   +4 more
wiley   +1 more source

Development of an Efficient Strategy to Improve Extracellular Polysaccharide Production of Ganoderma lucidum Using L-Phenylalanine as an Enhancer

Frontiers in Microbiology, 2019
Ganoderma lucidum has been a well-known species of basidiomycetes for a long time, and has been widely applied in the fields of food and medicine. Based on the simulation results of model iZBM1060 in our previous research, the effect of L-phenylalanine ...
Zhongbao Ma, Zhongbao Ma, Mengmeng Xu, Mengmeng Xu, Qiong Wang, Qiong Wang, Feng Wang, Huihua Zheng, Zhenghua Gu, Zhenghua Gu, Youran Li, Youran Li, Guiyang Shi, Guiyang Shi, Zhongyang Ding, Zhongyang Ding   +15 more
doaj   +1 more source

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gonzalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M ...
M. E. Rubio‐Gonzalbo, Rubio-Gonzalbo, M. E., Forget, Ph., Duran, M., J. A. Bakker, M. Duran, Bakker, J.A., Blau, N., Rubio-Gozalbo, M. E., B. T. Poll‐The, Forget, P. P., C. Velter, T. J. De Koning, Bakker, J. A., Spaapen, L. J., van Ploos Amstel, H.K., N. Blau, L. J. M. Spaapen, L. Dorland, Poll-The, B. T., Bekhof, J., W. Loots, P. P. Forget, H. K. Ploos Van Amstel, de Koning, T.J., Rubio-Gozalbo, M.E., de Koning, T. J., Ploos van Amstel, H. K., Spaapen, L.J.M., Velter, C., Loots, W., the Poll, B.T., J. Bekhof, Dorland, L.   +33 more
core   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Serum Metabolomic Profiling for Acute Myocardial Infarction Based on Nuclear Magnetic Resonance Spectroscopy

NMR in Biomedicine, Volume 39, Issue 9, September 2026.
1H NMR–based serum metabolomics was employed to identify AMI differential biomarkers and associated metabolic pathways. A diagnostic model evaluated via ROC analysis demonstrated robust performance of these biomarkers, thereby providing novel insights into the pathophysiological mechanisms underlying AMI. ABSTRACT Acute myocardial infarction (AMI) is a
Bing He, Zhengyi Sun, Chunyu Wang, Yiting Wang, Xuewen Li, Qi Zhou, Zhiguo Zhang, Jiancheng Xu   +7 more
wiley   +1 more source