Phenylketonuria — Research Publications

MONDO:0008807

Research Landscape

Phenylketonuria has an active research community with 89 publications classified from a 24-month PubMed sample, with a focus on review research.

89publications classified from PubMed

Based on a 24-month sample. This number grows as we discover and classify more research.

89 of ~222 classified so far40%

Early snapshot — analysis in progress

By Research Type

Review

Epidemiology

Gene Therapy

Clinical Trial

Basic Science

Biomarker

Case Report

Publications by Year

Distribution within our current sample

202424

202525

202626

Year-over-year: +47% (comparing 2024 vs 2025 within this sample)

Top Journals

Orphanet journal of rare diseases11

Molecular genetics and metabolism6

Nutrients6

International journal of molecular sciences4

Molecular genetics and metabolism reports3

Journal of inherited metabolic disease3

Top Research Groups

Harding CO3

Whittaker MN2

Dos Santos Y2

van Wegberg AMJ1

Baek R1

De Robertis V1

51 new research groups published for the first time in the last 12 months.

Publications

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