Faculty profile

Laura Guilder

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Assistant ProfessorDepartment of PaediatricsUniversity of Toronto

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Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial
Metabolism · 2026
Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.
Frontiers in genetics · 2026
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
American journal of medical genetics. Part A · 2026

All 7 publications

7 publications.

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

Maria Giżewska, Anita Inwood, Renata Tyčová, Suresh Vijay, Olivia Fjellbirkeland, Francjan van Spronsen, Eva Maria Venegas-Moreno, Laura Guilder, Alberto Burlina, Heidi L Peters, Murray Alan Potter, Urh Groselj, A. Chakrapani, Amaya Bélanger-Quintana, François Maillot, Frank Rutsch, Jean-Baptiste Arnoux, Michel C. Tchan, Kim M. Ingalls, Zhenming Zhao, Catalina Hughes, Neil Smith, Ania C. Muntau

Metabolism20264 citationsOpen Access

DOI: 10.1016/j.metabol.2026.156513 PMID: 41616812

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.

Al Masseri Z, Marshall CR, Martin N, Cordeiro D, Guilder L, Inbar-Feigenberg M

Frontiers in genetics2026Open Access

DOI: 10.3389/fgene.2026.1912912 PMID: 42713553

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Al Masseri Z, Guilder L, Inbar-Feigenberg M, Cameron J, Venkatachalam S, Chitayat D

American journal of medical genetics. Part A2026

DOI: 10.1002/ajmg.a.64239 PMID: 40913360

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Giżewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yıldız Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC

Genetics in medicine : official journal of the American College of Medical Genetics2026

DOI: 10.1016/j.gim.2026.101683 PMID: 41537382

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.

Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N, APHENITY study group

Lancet (London, England)2024

DOI: 10.1016/s0140-6736(24)01556-3 PMID: 39368841

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Radenkovic S, Johnsen C, Schulze A, Lail G, Guilder L, Schwartz K, Schultz M, Mercimek-Andrews S, Boyer S, Morava E

Therapeutic advances in rare disease202311 citationsOpen Access

DOI: 10.1177/26330040221150269 PMID: 37181075

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Guilder L, Prada CE, Saenz S, Jain-Ghai S, Karp N, Mazariegos G, Ratko S, Salvarinova R, Mercimek-Andrews S

Molecular genetics and metabolism reports2021First author

DOI: 10.1016/j.ymgmr.2021.100763 PMID: 33996492

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Laura Guilder

Research

Latest papers

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

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.

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Frequent collaborators

Michal Inbar-Feigenberg

Murray Alexander Potter

David Chitayat

Jessie Cameron

Christian Marshall

Andreas Schulze