Phenylketonuria (PKU) Latest Advances

Chimeric structural isomer fragments as cost-efficient internal standards for amino acid quantification by mass spectrometry.

Journal: Analytical methods : advancing methods and applications

Published: August 12, 2026

European PKU guidelines at a glance: infographics summarising key recommendations.

Journal: Molecular genetics and metabolism

Published: July 28, 2026

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Journal: Journal of child neurology

Published: July 24, 2026

Modulation of phenylalanine assembly kinetics by gallic acid and its therapeutic implications in phenylketonuria (PKU).

Journal: Soft matter

Published: July 23, 2026

Prolactinoma Associated with L-Dopa-Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency.

Journal: Journal of clinical research in pediatric endocrinology

Published: July 22, 2026

Bioinformatic Insights into AuNP-Directed Enzyme Orientation for Enhanced Phenylalanine Electrochemical Biosensing.

Journal: ACS applied bio materials

Published: July 21, 2026

Minicells derived from Escherichia coli Nissle 1917 for efficient phenylalanine degradation.

Journal: Applied and environmental microbiology

Published: July 21, 2026

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Journal: Genetic testing and molecular biomarkers

Published: July 14, 2026

Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations.

Journal: Children (Basel, Switzerland)

Published: July 12, 2026

Phenylalanine Transport through LAT1: Insights from Molecular Dynamics, Steered Molecular Dynamics, and Targeted Molecular Dynamics.

Journal: The journal of physical chemistry. B

Published: July 09, 2026

Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?

Journal: Molecular genetics and metabolism

Published: June 26, 2026

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.

Journal: Molecular genetics and metabolism

Published: June 25, 2026

Phenylketonuria (PKU) Latest Advances

Find the Latest Research About Phenylketonuria (PKU)

Chimeric structural isomer fragments as cost-efficient internal standards for amino acid quantification by mass spectrometry.

Chimeric structural isomer fragments as cost-efficient internal standards for amino acid quantification by mass spectrometry.

European PKU guidelines at a glance: infographics summarising key recommendations.

European PKU guidelines at a glance: infographics summarising key recommendations.

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Modulation of phenylalanine assembly kinetics by gallic acid and its therapeutic implications in phenylketonuria (PKU).

Modulation of phenylalanine assembly kinetics by gallic acid and its therapeutic implications in phenylketonuria (PKU).

Prolactinoma Associated with L-Dopa-Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency.

Prolactinoma Associated with L-Dopa-Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency.

Bioinformatic Insights into AuNP-Directed Enzyme Orientation for Enhanced Phenylalanine Electrochemical Biosensing.

Bioinformatic Insights into AuNP-Directed Enzyme Orientation for Enhanced Phenylalanine Electrochemical Biosensing.

Minicells derived from Escherichia coli Nissle 1917 for efficient phenylalanine degradation.

Minicells derived from Escherichia coli Nissle 1917 for efficient phenylalanine degradation.

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations.

Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations.

Phenylalanine Transport through LAT1: Insights from Molecular Dynamics, Steered Molecular Dynamics, and Targeted Molecular Dynamics.

Phenylalanine Transport through LAT1: Insights from Molecular Dynamics, Steered Molecular Dynamics, and Targeted Molecular Dynamics.

Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?

Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.