Mildrid Yeo

Great Ormond Street Hospital For Children
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Journal: Molecular genetics and metabolism

Published: February 25, 2025

Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.

Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.

Journal: Molecular genetics and metabolism reports

Published: September 24, 2024

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Journal: Molecular genetics and metabolism reports

Published: November 01, 2023

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal: Journal of inherited metabolic disease

Published: July 26, 2023

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: June 14, 2023

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Journal: JIMD reports

Published: April 28, 2023

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Journal: Epilepsia

Published: November 02, 2022

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.

Journal: Clinical dysmorphology

Published: December 26, 2021

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Journal: JIMD reports

Published: August 11, 2021

Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.

Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.

Journal: Annals of clinical biochemistry

Published: September 16, 2020

What are the information needs of parents caring for a child with Glutaric aciduria type 1?

What are the information needs of parents caring for a child with Glutaric aciduria type 1?

Journal: BMC pediatrics

Published: January 02, 2019

Neonatal head and torso vibration exposure during inter-hospital transfer.

Neonatal head and torso vibration exposure during inter-hospital transfer.

Journal: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of engineering in medicine

Published: January 07, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026