Phenylketonuria (PKU) Latest Advances

Newborn Sequencing: The Promise and Perils.

Journal: Annual review of genomics and human genetics

Published: March 27, 2026

Phenylketonuria - a disorder in amino acid metabolism

Journal: MMW Fortschritte der Medizin

Published: February 16, 2026

Retraction of: Proteasome-Dependent Degradation of Guanosine 5'-Triphosphate Cyclohydrolase I Causes Tetrahydrobiopterin Deficiency in Diabetes Mellitus.

Journal: Circulation

Published: January 30, 2026

Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065".

Journal: International journal of molecular sciences

Published: January 29, 2026

Balancing personalized medicine and scalability in base editing for phenylketonuria.

Journal: Molecular therapy. Nucleic acids

Published: January 26, 2026

The 3-Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary.

Journal: Autism research : official journal of the International Society for Autism Research

Published: January 14, 2026

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 09, 2026

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.

Journal: International journal of neonatal screening

Published: January 01, 2026

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Journal: International journal of neonatal screening

Published: December 30, 2025

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects.

Journal: Nutrients

Published: December 27, 2025

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Journal: Nutrients

Published: December 17, 2025

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.

Journal: Molecular genetics and metabolism reports

Published: December 12, 2025

Phenylketonuria (PKU) Latest Advances

Find the Latest Research About Phenylketonuria (PKU)

Newborn Sequencing: The Promise and Perils.

Newborn Sequencing: The Promise and Perils.

Phenylketonuria - a disorder in amino acid metabolism

Phenylketonuria - a disorder in amino acid metabolism

Retraction of: Proteasome-Dependent Degradation of Guanosine 5'-Triphosphate Cyclohydrolase I Causes Tetrahydrobiopterin Deficiency in Diabetes Mellitus.

Retraction of: Proteasome-Dependent Degradation of Guanosine 5'-Triphosphate Cyclohydrolase I Causes Tetrahydrobiopterin Deficiency in Diabetes Mellitus.

Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065".

Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. Int. J. Mol. Sci. 2024, 25, 5065".

Balancing personalized medicine and scalability in base editing for phenylketonuria.

Balancing personalized medicine and scalability in base editing for phenylketonuria.

The 3-Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary.

The 3-Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary.

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects.

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects.

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.