Concepedia

Mary Anne Preece

MA

Statistics

Publications

13

Citations

555

H-Index

12

Active since

1997

Affiliations

Birmingham Children's Hospital(Current)

University of Birmingham

Queen Elizabeth Hospital Birmingham

University of British Columbia

Child and Family Research Institute

Mary Anne Preece is an author at Birmingham Children's Hospital specializing in medicine, metabolism, and pathology.

Top concepts

Publications per year

1997–2020

13

Publications

13

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 104 citations

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase

Sacha Ferdinandusse, Simone Denis, Carlo W.T. van Roermund et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2017 · 84 citations · Full text

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Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease

A C J Hutchesson, Mary Anne Preece, George F. Gray et al. · Clinical Chemistry · 1997 · 55 citations · Full text

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy

Germaine Pierre, Kenneth D.R. Setchell, Jacqueline Blyth et al. · Journal of Inherited Metabolic Disease · 2008 · 55 citations

The Micronutrient Status of Patients with Phenylketonuria on Dietary Treatment: An Ongoing Challenge

Sharon Evans, Anne Daly, John K MacDonald et al. · Annals of Nutrition and Metabolism · 2014 · 49 citations

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