Publications by authors named "Laura Guilder"

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Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
Zainab Al Masseri, Laura Guilder, Michal Inbar-Feigenberg, Jessie Cameron, Siddika Venkatachalam

Am J Med Genet A· January 2026

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Infant with Refractory Seizures and Characteristic Diffusion Restriction Pattern on Neuroimaging.
Sangeetha Yoganathan, Pradeep Krishnan, Manohar Shroff, Mohammed AlQahtani, Prasiddha Parthasarathy, Laura Guilder

Can J Neurol Sci· November 2024

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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.
Ania C Muntau, Nicola Longo, Fatih Ezgu, Ida Vanessa D Schwartz, Melissa Lah, Laura Guilder

Lancet· October 2024

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Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder

Ther Adv Rare Dis· January 2023

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Organic Acidemias.
Laura L Guilder, Jonathan B Kronick

Pediatr Rev· March 2022

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Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Laura Guilder, Carlos E Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp

Mol Genet Metab Rep· June 2021

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