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Publications

This page brings together selected research publications relevant to PKU, HCU, MSUD, UCDs, and related rare metabolic conditions. The publication library below is organized by topic to help families, clinicians, researchers, and advocates browse more easily.

Jump to: Publication library | Plain-language summaries

Note: This section is intended to grow over time, with publications grouped under topic areas to support easier browsing as the library expands.

Publication library

Browse publications by topic using the dropdowns below. Within each area, the newest items are listed first where publication dates were available from your library list.

Understanding the Science

Cognitive Functioning in Phenylketonuria: A Lifespan Perspective

February 16, 2026

Phenylketonuria: A guide through the complex maze of its neurological pathophysiology providing a new perspective on treatment strategies

November 8, 2025

Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria

July 15, 2024

A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection

January 15, 2024

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an L-amino acid-based product

October 18, 2024

Treatments & Therapies

PKU

PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN

July 21, 2025

Alltrna presents preclinical data demonstration proof of concept for first tRNA development candidate

February 11, 2025

CAPTURING THE FULL PICTURE: A JOINT POLICY PAPER ON UNMET MEDICAL NEED IN PHENYLKETONURIA (PKU)

November 24, 2024

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

October 6, 2024

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

September 3, 2023

Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4)

December 24, 2024

HCU

Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

February 3, 2023

MSUD

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease

November 28, 2024

Newborn Screening & Diagnosis

Cross-disorder / systems

Pan Canadian Guidance for NBS

October 10, 2024

HCU

Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization

March 16, 2023

Early Development of Newborn Screening for HCU and Current Challenges

July 9, 2021

Newborn screening for homocystinurias: Recent recommendations versus current practice

January 3, 2019

Living with IEMs: Quality of Life, Mental Health, and Outcomes

Attitudes and Psychosocial Adjustment of Unaffected Siblings of Patients With Phenylketonuria

July 21, 2004

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

June 21, 2024

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria

August 3, 2021

Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria

July 15, 2024

Clinical Trials & Emerging Research

Pediatric Routinely Administered Clinical Therapeutics In Everyday practice Trials

January 9, 2026

April 15, 2025

Alltrna presents preclinical data demonstration proof of concept for first tRNA development candidate

February 11, 2025

PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN

July 21, 2025

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

October 6, 2024

Youth and family involvement in the development of a plain language trial results communication tool: CommuniKIDS

September 18, 2023

Registries & Data-Driven Research

Ensuring the sovereignty and security of Canadian health data

July 28, 2025

The PKU Patient Registry: Development of a patient-driven registry and initial outcomes

July 29, 2025

New patient registries will improve health care and outcomes for children and families living with rare diseases

October 5, 2024

Ethical and practical considerations related to data sharing when collecting patient reported outcomes in care based child health research

March 6, 2023

CO-DEVELOPING LONGITUDINAL PATIENT REGISTRIES FOR PHENYLKETONURIA AND MUCOPOLYSACCHARIDOSES IN CANADA

November 6, 2023

Designing patient-oriented longitudinal disease registries for children with rare metabolic diseases in Canada

May 3, 2022

Policy & Systems-Level Research

CAPTURING THE FULL PICTURE - UNMET MEDICAL NEED IN PHENYLKETONURIA (PKU)

June 6, 2025

Pan Canadian Guidance for NBS

October 10, 2024

CAPTURING THE FULL PICTURE: A JOINT POLICY PAPER ON UNMET MEDICAL NEED IN PHENYLKETONURIA (PKU)

November 24, 2024

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Plain-language summaries

Plain-language summaries will be added here over time to help make research findings easier to understand and share.

Coming soon.

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