G. Pierre

发表

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

E. Jameson, M. Dixon, A. Macdonald, 2020, Nutrients.

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

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

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

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

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

Robert W. Taylor, N. Lax, D. Turnbull, 2018, EBioMedicine.

Clinical presentation and natural history of Barth Syndrome: An overview

H. Vernon, Brittany Hornby, Carolyn L. Taylor, 2021, Journal of inherited metabolic disease.

Prospective treatment in carnitine–acylcarnitine translocase deficiency

C. Hendriksz, A. Chakrapani, M. Preece, 2007, Journal of Inherited Metabolic Disease.

Liver transplantation for neonatal‐onset citrullinemia

N. Heaton, M. Deheragoda, A. Dhawan, 2018, Pediatric transplantation.

Neurodegenerative disorders and metabolic disease

G. Pierre, 2013, Archives of Disease in Childhood.

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

Robert W. Taylor, W. Chung, A. Borczuk, 2018, American journal of human genetics.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy

K. Setchell, A. Chakrapani, M. Preece, 2008, Journal of Inherited Metabolic Disease.

Bone marrow transplantation in glycogen storage disease type 1b.

C. Hendriksz, A. Chakrapani, S. Lawson, 2008, The Journal of pediatrics.

Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study

P. Lunt, S. Love, P. Sharples, 2022, Journal of Pediatric Neurology.

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

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Metabolic disorders presenting as liver disease

E. Chronopoulou, G. Pierre, 2013 .

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

Robert W. Taylor, A. Norman, R. Mcfarland, 2019, Neuromuscular Disorders.

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2013, European journal of medical genetics.

Think hyperammonaemia: the importance of early clinical management in urea cycle disorders

G. Pierre, C. Poole, E. Chronopoulou, 2023, Paediatrics & child health.

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Robert W. Taylor, G. Gorman, I. Hargreaves, 2020, JIMD reports.

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy

P. Gissen, A. Chakrapani, M. Preece, 2006, Journal of Inherited Metabolic Disease.