Results 61 to 70 of about 538,734 (195)

Saccadic reaction time and ocular findings in phenylketonuria

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration.
Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz   +5 more
doaj   +1 more source

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

JIMD Reports, 2023
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from ...
Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy   +5 more
doaj   +1 more source

Unexpected Suppression of Tomato Fruit Cuticle Formation by Overexpression of a Key Cutin Biosynthetic Enzyme

Plant Biotechnology Journal, EarlyView.
ABSTRACT Fruit cuticles regulate the diffusion of water, gases and solutes, functioning as essential protective interfaces against environmental and biotic stresses. Engineering cuticle structure and mechanics therefore represents a promising strategy for improving fruit quality and resilience.
Gulab Chand Arya, Ekram Wassel, Vibha Mishra, Ekaterina Manasherova, Ruth E. Stark, Hagai Cohen   +5 more
wiley   +1 more source

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

Multiplexed Nanosensors for Real‐Time Monitoring of VOC‐Mediated Signalling Response in Plants

Plant, Cell &Environment, EarlyView.
ABSTRACT To enhance crop performance, intercropping strategies leverage volatile organic compound (VOC)‐driven interactions with companion plants that constitutively emit VOCs. Despite the agricultural importance, the mechanisms and kinetics of VOC‐mediated sensory transduction in receiver plants eavesdropping on neighbouring non‐kin emitters remain ...
Mervin Chun‐Yi Ang, Jolly Madathiparambil Saju, Sayyid Mohaideen, Niha Dhar, Sarangapani Sreelatha, Sayuj Koyyappurath, Thomas K. Porter, Gabriel Sánchez‐Velázquez, Vaishnavi Reddy Amarr, Song Wang, Duc Thinh Khong, Suh In Loh, Michael S. Strano, Sarojam Rajani   +13 more
wiley   +1 more source

HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY [PDF]

Pediatric Research, 1977
A child with phenylketonuria diagnosed early developed severe hypotonia with minimal signs of spasticlty and retardation in all developmental patterns despite adequate dietary management. At 4 years of age, a liver biopsy was performed and the components of the phenylalanine hydroxylase system were measured in vitro.
Sheldon Milstien, Sheldon Orloff, Stephen Spielberg, Stanley Berlow, Joseph D Schulman, Seymour Kaufman   +5 more
openaire   +1 more source

Hydroxycinnamic Acid Amides Emerge as Multifunctional Molecules Involved in Regeneration and Volatile Signalling During Wound Responses

Plant, Cell &Environment, EarlyView.
ABSTRACT Hydroxycinnamic acid amides (HCAAs) are phenylpropanoid‐derived metabolites traditionally associated with antimicrobial defence and cell wall reinforcement during plant–pathogen interactions. However, their contribution to plant responses to mechanical injury, particularly in wound healing and damage‐induced signalling, remains poorly ...
Carmen Grech‐Hernández, Andrade Cynthia, Francisco Vera‐Sirera, Álvaro Luis Jiménez‐Jiménez, Marc Valls, Nuria S. Coll, Ismael Rodrigo, José María Bellés, María Pilar López‐Gresa, Purificación Lisón   +9 more
wiley   +1 more source

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Molecular Therapy: Methods & Clinical Development, 2020
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central nervous system. Restriction of dietary phenylalanine intake remains the standard of PKU care and
Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Sean Nygaard, Taylor L. Mighell, Markus Grompe, Cary O. Harding   +6 more
doaj   +1 more source

Almost 200 years of anthocyanin research: What we know, what we assume and what remains unknown

Plant Biology, EarlyView.
Nearly 200 years of anthocyanin research reveal a well‐understood anthocyanin biosynthetic pathway. However, there are still open questions regarding its evolution, functions and ecological significance. Abstract Flavonoids are frequently presented as health‐beneficial plant metabolites, and their subclass anthocyanins is best known for striking flower
N. Choudhary, N. Khatun, B. Pucker
wiley   +1 more source

Molecular characterization of phenylalanine hydroxylase deficiency in Chile [PDF]

Human Mutation, 1999
Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application of the DGGE scanning method in the remaining ...
Bel�n P�rez, Lourdes R. Desviat, Marisel De Lucca, Veronica Cornejo, Erna Raimann, Magdalena Ugarte   +5 more
openaire   +1 more source