Results 91 to 100 of about 38,679 (221)

The Reaction Mechanism of Phenylalanine Hydroxylase. – A Question of Coordination

Pteridines, 2005
Phenylalanine hydroxylase (PAH) is a non-heme iron and tetrahydrobiopterin-dependent enzyme that catalyzes the hydroxylation of L-phenylalanine to L-tyrosine using dioxygen as additional substrate.
Teigen Knut, Jensen Vidar R., Martinez Aurora   +2 more
doaj   +1 more source

Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]

, 2016
BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina, C Landvogt, CM McKean, D Vliet van, D Vliet van, F Güttler, FJ Spronsen van, HC Curtius, HE Carlson, HE Carlson, J Denecke, J Weglage, KD Wang, KH Schulpis, M Spada, M Velema, MJ Groot de, N Ben-Jonathan, N Blau, W Krause   +19 more
core   +2 more sources

Age‐Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)‐responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailability following oral BH4 administration in PKU and whether this influences BH4 responsiveness.
Kana Kitayama, Tomoko Sakaguchi, Noriko Nakano, Daijiro Kabata, Haruo Shintaku, Takashi Hamazaki   +5 more
wiley   +1 more source

Brain Age in Adult Patients With Early‐Treated Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early‐treated classical PKU compared to healthy controls. Thirty early‐treated adults with classical PKU (age 19–48 years) and 59 age‐
Laura Winiger, Raphaela Muri, Tobias Kaufmann, Michel Hochuli, Emma Vardy, Piotr Radojewski, Katarzyna Pospieszny, Roman Trepp, Regula Everts   +8 more
wiley   +1 more source

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  

Microarray analysis of spring barley cultivars displaying differing sensitivity to physiological leaf spot (PLS) [PDF]

, 2015
peer-reviewedPhysiological leaf spot (PLS) is a disorder of spring barley (Hordeum vulgare L.), which has become more pronounced in recent years. The initial symptoms are small chlorotic/brown spots on the upper four leaves, which may develop into ...
Burke, James I., Dix, Philip J., Moran, Mary G.   +2 more
core   +1 more source

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi‐Site Study

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Phenylketonuria (PKU) is an inherited metabolic disorder causing elevated phenylalanine (Phe) levels and neurocognitive impairment if left untreated. While dietary therapy remains the treatment standard, adherence declines during adolescence. Pegvaliase, an injectable enzyme therapy approved for adults > 18 years in the United States, lowers ...
Suzanne Hollander, Briana Valli, Erika Vucko, Melissa Lah, Amarilis Sanchez‐Valle, Brittany M. Murray, Amy Kritzer, Stephanie Sacharow   +7 more
wiley   +1 more source

Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilas

Revista Ciencias Biomédicas, 2013
Introduction: Phenylketonuria (PKU) is an error of the metabolism of the amino acids due to the gene mutation that codifies for the enzyme called phenylalanine hydroxylase (PAH). 564 cases of mutations in different exons have been reported.
Alvear-Sedán Ciro, Barboza-Ubarnes Miriam, Stave-Salgado Karen   +2 more
doaj  

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  

Exploring Raman Spectroscopy as a Detection Tool for Cardiovascular Diseases and Diabetes Mellitus in Fingernails

Journal of Raman Spectroscopy, Volume 57, Issue 3, Page 503-512, March 2026.
Endogenous constituents vary between fingernails of healthy, cardiovascular and diabetic participants. Raman spectroscopy yields a biochemical fingerprint of key endogenous constituents and disease‐related biomarkers. Combined with machine learning algorithms, Raman spectroscopy can classify healthy, cardiovascular and diabetic based on their Raman ...
Megan Wilson, Dhiya Al‐Jumeily, Leung Tang, Jason Birkett, Iftikhar Khan, Ismail Abbas, Matthew Harper, Sulaf Assi   +7 more
wiley   +1 more source