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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.10-21

2009

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Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

American journal of human genetics, 2007-11, Vol.81 (5), p.1006-1024

2007

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BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells

Cellular & molecular immunology, 2020-09, Vol.17 (9), p.954-965

2020

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Correction of Kinetic and Stability Defects by Tetrahydrobiopterin in Phenylketonuria Patients with Certain Phenylalanine Hydroxylase Mutations

Proceedings of the National Academy of Sciences - PNAS, 2004-11, Vol.101 (48), p.16903-16908

2004

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Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH

Human mutation, 2003-04, Vol.21 (4), p.370-378

2003

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Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Human mutation, 2004-11, Vol.24 (5), p.388-399

2004

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The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study

Molecular genetics and metabolism, 2005-12, Vol.86, p.43-53

2005

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Protein Homeostasis Diseases: Mechanisms and Novel Therapies

Pey, Angel L

1, 2020

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Thermodynamic Characterization of the Binding of Tetrahydropterins to Phenylalanine Hydroxylase

Journal of the American Chemical Society, 2004-10, Vol.126 (42), p.13670-13678

2004

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Ambient Intelligence - Software and Applications: 11th International Symposium on Ambient Intelligence

1st Edition 2021, 2020

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Advances in Public Transport Platform for the Development of Sustainability Cities

2022

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Digital Twin Framework for Energy Efficient Greenhouse Industry 4.0

Ambient Intelligence – Software and Applications, p.293-297

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Detection Violent Behaviors: A Survey

Ambient Intelligence – Software and Applications, p.106-116

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Ambient Intelligence – Software and Applications: 11th International Symposium on Ambient Intelligence

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Video Analysis System Using Deep Learning Algorithms

Ambient Intelligence – Software and Applications, p.186-199

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Society of “Citizen Science through Dancing”

Ambient Intelligence – Software and Applications, p.13-23

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Towards Learning Travelers’ Preferences in a Context-Aware Fashion

Ambient Intelligence – Software and Applications, p.203-212

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Explainable Intelligent Environments

Ambient Intelligence – Software and Applications, p.34-43

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Using Jason Framework to Develop a Multi-agent System to Manage Users and Spaces in an Adaptive Environment System

Ambient Intelligence – Software and Applications, p.137-145

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Deep Symbolic Learning and Semantics for an Explainable and Ethical Artificial Intelligence

Ambient Intelligence – Software and Applications, p.272-278

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New Approach to Recommend Banking Products Through a Hybrid Recommender System

Ambient Intelligence – Software and Applications, p.262-266

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Extraction of Travellers’ Preferences Using Their Tweets

Ambient Intelligence – Software and Applications, p.224-235

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Sleep Performance and Physical Activity Estimation from Multisensor Time Series Sleep Environment Data

Ambient Intelligence – Software and Applications, p.166-176

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Clifford Algebras: A Proposal Towards Improved Image Recognition in Machine Learning

Ambient Intelligence – Software and Applications, p.258-261

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System for Recommending Financial Products Adapted to the User’s Profile

Ambient Intelligence – Software and Applications, p.117-126

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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells

Correction of Kinetic and Stability Defects by Tetrahydrobiopterin in Phenylketonuria Patients with Certain Phenylalanine Hydroxylase Mutations

Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study

Protein Homeostasis Diseases: Mechanisms and Novel Therapies

Thermodynamic Characterization of the Binding of Tetrahydropterins to Phenylalanine Hydroxylase

Ambient Intelligence - Software and Applications: 11th International Symposium on Ambient Intelligence

Advances in Public Transport Platform for the Development of Sustainability Cities

Digital Twin Framework for Energy Efficient Greenhouse Industry 4.0

Detection Violent Behaviors: A Survey

Ambient Intelligence – Software and Applications: 11th International Symposium on Ambient Intelligence

Video Analysis System Using Deep Learning Algorithms

Society of “Citizen Science through Dancing”

Towards Learning Travelers’ Preferences in a Context-Aware Fashion

Explainable Intelligent Environments

Using Jason Framework to Develop a Multi-agent System to Manage Users and Spaces in an Adaptive Environment System

Deep Symbolic Learning and Semantics for an Explainable and Ethical Artificial Intelligence

New Approach to Recommend Banking Products Through a Hybrid Recommender System

Extraction of Travellers’ Preferences Using Their Tweets

Sleep Performance and Physical Activity Estimation from Multisensor Time Series Sleep Environment Data

Clifford Algebras: A Proposal Towards Improved Image Recognition in Machine Learning

System for Recommending Financial Products Adapted to the User’s Profile

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