Mary A. Preece
Steelhouse Lane
Birmingham, ENG B46NH, United Kingdom
Birmingham, ENG B46NH, United Kingdom
Last Updated: 09/26/2026
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Found 20 publications
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Journal: International journal of neonatal screening
Published: October 23, 2023
A case series of cerebral venous thrombosis as the first manifestation of homocystinuria.
Journal: European stroke journal
Published: March 28, 2022
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
Journal: Euroasian journal of hepato-gastroenterology
Published: November 17, 2021
Failure of national antenatal vitamin D supplementation programme puts dark skinned infants at highest risk: A newborn bloodspot screening study.
Journal: Clinical nutrition (Edinburgh, Scotland)
Published: July 27, 2020
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.
Journal: Nutrients
Published: March 31, 2020
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Journal: Journal of inherited metabolic disease
Published: February 14, 2019
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: October 18, 2017
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 03, 2017
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.
Journal: Molecular genetics and metabolism reports
Published: September 11, 2016
How to use a controlled fast to investigate hypoglycaemia.
Journal: Archives of disease in childhood. Education and practice edition
Published: July 01, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Journal: Molecular genetics and metabolism
Published: January 18, 2016
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia.
Journal: The Journal of pediatrics
Published: October 27, 2015
Last Updated: 09/26/2026