Charles R. Turner
Guy's And St Thomas' NHS Trust
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 33 publications
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Journal: Molecular genetics and metabolism
Published: August 20, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.
Journal: JIMD reports
Published: February 11, 2024
The effects of ciclosporin and methotrexate on kidney function in the treatment of severe atopic dermatitis in children: results from the TREAT trial.
Journal: The British journal of dermatology
Published: November 18, 2023
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.
Journal: Orphanet journal of rare diseases
Published: January 14, 2022
Effect of serum sample storage temperature on metabolomic and proteomic biomarkers.
Journal: Scientific reports
Published: December 08, 2021
Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Journal: Annals of hematology
Published: November 04, 2021
Reliability of different estimated glomerular filtration rate as measures of renal function in children with sickle cell disease.
Journal: Blood cells, molecules & diseases
Published: May 04, 2021
Cerebrospinal fluid, neuroinflammation, and electrospray ionization mass spectrometry.
Journal: Developmental medicine and child neurology
Published: January 07, 2021
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
CoQ10 Deficient Endothelial Cell Culture Model for the Investigation of CoQ10 Blood-Brain Barrier Transport.
Journal: Journal of clinical medicine
Published: September 11, 2020
Predisposition to superimposed preeclampsia in women with chronic hypertension: endothelial, renal, cardiac, and placental factors in a prospective longitudinal cohort.
Journal: Hypertension in pregnancy
Published: June 02, 2020
Urinary biomarkers in pelvic-ureteric junction obstruction: a systematic review.
Journal: Translational andrology and urology
Published: May 19, 2020
Last Updated: 09/26/2026