Results 101 to 110 of about 32,654 (265)

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  

Late‐onset multiple system atrophy: Neuropathological features associated with slow disease progression

Brain Pathology, Volume 35, Issue 5, September 2025.
Late‐onset multiple system atrophy (LO‐MSA; onset ≥75 years) shows milder degeneration of the striatonigral and olivopontocerebellar systems and serotonergic neurons in the ventrolateral medulla than usual‐age‐onset MSA with a similar disease duration. LO‐MSA may therefore exhibit slower pathological progression.
Misato Ozawa, Rie Saito, Takuya Konno, Yasuko Kuroha, Tetsuhiko Ikeda, Akio Yokoseki, Takashi Tani, Tomoe Sato, Jiro Idezuka, Reiji Koide, Shigeru Fujimoto, Osamu Onodera, Mari Tada, Akiyoshi Kakita   +13 more
wiley   +1 more source

The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. [PDF]

Hum Genomics, 2023
Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X.   +13 more
europepmc   +1 more source

72 Phenylalanine Hydroxylase Activity in Hyperphenylalanernia [PDF]

, 1967
Margaret E. O’Flynn, Parvin Justice, David Yi‐Yung Hsia, Robert B. Lawson   +3 more
openalex   +1 more source

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials [PDF]

, 2018
Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Atkinson, John P, Boyer, Ryan, Gu, Zhonghu, Gupta, Soumi, Harding, Cary O, Knight, Vijaya, Larimore, Kevin, Lau, Kelly, Li, Mingjin, Olbertz, Joy, Rosen, Orli, Shepherd, Gillian, Shweighardt, Becky, Weng, Haoling H, Zoog, Stephen J   +14 more
core   +2 more sources

Change Your Diet: How CO2, Plant Phenology and Genotype Alter Grapevine Quality and Affect Performance and Larval Transcriptome of an Insect Herbivore

Molecular Ecology, Volume 34, Issue 17, September 2025.
ABSTRACT Herbivorous insects need to cope with changing host plant biochemistry caused by abiotic and biotic impacts, to meet their dietary requirements. Larvae of the multivoltine European grapevine moth Lobesia botrana, one of the main insect pests in viticulture, feed on both flowers and berries.
Christine Becker, Christof B. Steingass, Heiko Vogel, Annette Reineke   +3 more
wiley   +1 more source

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. [PDF]

Mol Biol Rep, 2022
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L.   +6 more
europepmc   +1 more source

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Orphanet Journal of Rare Diseases
Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes.
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring   +17 more
doaj   +1 more source

Conventional Phenylketonuria Treatment

Journal of Inborn Errors of Metabolism and Screening, 2016
Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system.
Guillén-López Sara MS, RD, López-Mejía Lizbeth Alejandra RD, Ibarra-González Isabel MS, Vela-Amieva Marcela MD   +3 more
doaj   +1 more source

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype [PDF]

, 2017
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau, Nenad, Dhondt, Jean-Louis, Heizmann, Claus W., Thöny, Beat   +3 more
core