Results 101 to 110 of about 39,051 (241)

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  

Expression of a bacterial 3-dehydroshikimate dehydratase reduces lignin content and improves biomass saccharification efficiency. [PDF]

, 2015
Lignin confers recalcitrance to plant biomass used as feedstocks in agro-processing industries or as source of renewable sugars for the production of bioproducts. The metabolic steps for the synthesis of lignin building blocks belong to the shikimate and
Baidoo, Edward EK, Eudes, Aymerick, George, Anthe, Keasling, Jay D, Liang, Yan, Loqué, Dominique, Sathitsuksanoh, Noppadon, Simmons, Blake A, Singh, Seema, Yang, Fan   +9 more
core  

Анализ мутаций гена фенилаланингидроксилазы у больных фенилкетонурией Кемеровской области и Республики Саха [PDF]

, 2012
Представлены результаты молекулярно­генетического исследования гена фенилаланингидроксилазы (ФАГ) среди 46 больных фенилкетонурией (ФКУ) и членов их семей, проживающих в Кемеровской области и Республике Саха.
Батурина, О.А., Бондарь, А.А., Жабин, С.Г., Морозов, И.В., Тупикин, А.Е.   +4 more
core   +1 more source

Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Corentin Gondrand, Anna T. Reischl‐Hajiabadi, Estelle Bonedeau, Nicolas Weiß, Gerd Schneider, Maurice Fahn, Frederic Myers, Philipp Minel Städle, Kathrin Jeltsch, Georg F. Hoffmann, Jürgen G. Okun, Dorothea Haas, Sven F. Garbade, Kai Johnsson, Thomas Opladen   +14 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  

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real‐World Matched Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Nicola Longo, Barbara K. Burton, Shailja Vaghela, Fan Mu, Aolin Wang, Jess Smith, Emily Reichert, Ryan B. Simpson, Vanja Sikirica, Sue Perera   +9 more
wiley   +1 more source

The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]

, 2001
The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core   +1 more source

PET Studies of Cerebral Levodopa Metabolism: A Review of Clinical Findings and Modeling Approaches [PDF]

, 2009
[18F]Fluoro-3,4-dihydroxyphenyl-l-alanine (FDOPA) was one of the first successful tracers for molecular imaging by positron emission tomography (PET), and has proven immensely valuable for studies of Parkinson’s disease.
Cumming, Paul, Kumakura, Yoshitaka
core   +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

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source