Phenylketonuria (pku) - Genetic Mutations

Relevant Publications

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Issue Release: 2024

Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review.

Issue Release: 2024

The Experience of Phenylketonuria in Pregnancy and the Developing Maternal-Infant Relationship: A Qualitative Study.

Issue Release: 2024

The struggle that is phenylketonuria: What do the patients and caregivers suffer from.

Issue Release: 2024

Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.

Issue Release: 2024

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.

Issue Release: 2024

Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry.

Issue Release: 2024

Advancements in food science for Phenylketonuria (PKU) management: a comprehensive review.

Issue Release: 2024

Assessing the lived experiences of females with phenylketonuria in their health management.

Issue Release: 2024

Glycomacropeptide: A comprehensive understanding of its major biological characteristics and purification methodologies.

Issue Release: 2024

Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.

Issue Release: 2024

Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria.

Issue Release: 2024

The Impact of and Variants on Periodontitis Risk in Phenylketonuria and Type 1 Diabetes Mellitus Patients in a Latvian Population.

Issue Release: 2024

Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).

Issue Release: 2024

Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial.

Issue Release: 2024

Intake Modalities of Amino Acid Supplements: A Real-World Data Collection from Phenylketonuria Patients.

Issue Release: 2024

Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.

Issue Release: 2024

Quality of Life in Patients with Phenylketonuria: A Systematic Review.

Issue Release: 2024

Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients.

Issue Release: 2024

A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria.

Issue Release: 2024

How Does Sanger Sequencing Compare to Next-Generation Sequencing (NGS)?

What is Gene Cloning?

How is Cystic Fibrosis Inherited?

What is Autism Spectrum Disorder?

What are the Ethical Concerns?

Can Mutations Be Prevented or Controlled?

What Are the Risks Associated with Prenatal Screening and Diagnostic Tests?

What are Induced Mutations?

How Does NGS Work?

What are BRCA1 and BRCA2 Genes?

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