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Germaine Pierre | Researchclopedia

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Germaine Pierre

Bristol Royal Hospital for Children

34

Works

687

Citations

14

h-index

16

i10-index

Research Topics

Metabolism and Genetic Disorders Mitochondrial Function and Pathology Folate and B Vitamins Research

Affiliations

University Hospitals Bristol NHS Foundation Trust2017–2024

Bristol Royal Hospital for Children2014–2025

Children Living with Inherited Metabolic Diseases2016–2016

Birmingham Children's Hospital2006–2013

Bristol Hospital2018–2018

Top Works

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger,Monika Oláhová,et al.

201785 citations

Neonatal Health and Biochemistry

Genetic Neurodegenerative Diseases

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp,Elisa Mastantuono,et al.

201883 citations

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Yi Shiau Ng,Nichola Z. Lax,et al.

201867 citations

Clinical presentation and natural history of Barth Syndrome: An overview

Carolyn L. Taylor,Emily S. Rao,et al.

202166 citations

Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

Nadja Mingirulli,Angela Pyle,et al.

201959 citations

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy

Germaine Pierre,Kenneth D.R. Setchell,et al.

200855 citations

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Zhiwen Xu,Wing‐Sze Lo,et al.

201849 citations

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Karen W. Gripp,Sarah Smithson,et al.

202145 citations

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

Germaine Pierre,Geothy Chakupurakal,et al.

200833 citations