C. Charpentier

Publications149
h-index28
Citations2,748
Highly Influential Citations71
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Optimal conditions for prolidase assay by proline colorimetric determination: application to iminodipeptiduria.
TLDR
The need for greater sensitivity led to the introduction of several modifications: dialysis was eliminated and the substrate concentration and incubation time were changed, and the reaction mixture was preincubated with Mn2+ for 24 h in order to triple prolidase activity.
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
TLDR
It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspecialty clinics, including neurology, gastroenterology, cardiology, and genetics.
Prolidase and prolidase deficiency.
TLDR
Clinical symptoms, biological considerations and prolidase properties, and methods for investigating urinary iminodipeptides are reviewed, leading to a hypothesis for their mechanism.
Plasma prolidase activity: a possible index of collagen catabolism in chronic liver disease.
TLDR
It is believed that plasma prolidase activity may be high only in the early stage of fibrosis, consistent with the data on rat-liver collagenolytic activities during CCl4 administration.
Medium chain acyl-CoA dehydrogenase deficiency.
TLDR
Avoidance of prolonged fasting seems to be the mainstay of treatment in medium chain acyl-CoA dehydrogenase deficiency cases, with hypoglycaemia with hypoketonuria and sometimes metabolic acidosis.
Clinical Approach to Inherited Metabolic Diseases
TLDR
It is an absolute necessity to teach primary care physicians a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations into inborn errors of metabolism.
Clinical outcome and long-term management of 17 patients with propionic acidaemia
TLDR
The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development, and the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation
TLDR
A normal profile, even after stress and loading, does not rule out an inborn error of lactate/pyruvate oxidation, so the clinical utility of these profiles needs to be interpreted cautiously in very ill patients in relation to the cardiocirculatory condition and to therapy.
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency
TLDR
Severe coenzyme Q10 deficiency of muscle in a 4-year-old boy presenting with progressive muscle weakness, seizures, cerebellar syndrome, and a raised cerebro-spinal fluid lactate concentration is reported, suggesting a defect in the mitochondrial coen enzyme Q10 content.
Neonatal management of organic acidurias: clinical update
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