Phenylketonuria (pku) - Neonatal Disorders

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

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