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Catherine Costa

Researcher at University of Paris

Publications -  15
Citations -  582

Catherine Costa is an academic researcher from University of Paris. The author has contributed to research in topics: Prenatal diagnosis & Aldolase B. The author has an hindex of 10, co-authored 14 publications receiving 546 citations.

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Real-Time PCR Coupled with Automated DNA Extraction and Detection of Galactomannan Antigen in Serum by Enzyme-Linked Immunosorbent Assay for Diagnosis of Invasive Aspergillosis

TL;DR: The LightCycler PCR assay could be used in association with the GM assay to improve the reliability of IA diagnosis and is retrospectively compared with an enzyme-linked immunosorbent assay for the detection of galactomannan in serum from 14 patients with IA.
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Analysis of microsatellite markers of Candida albicans used for rapid typing.

TL;DR: Microsatellite marker analysis with multiplex PCR and automated procedures has a high throughput and should be suitable for large epidemiologic studies of C. albicans, confirming that candidemia usually originates from the colonizing isolate.
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Development of two real-time quantitative TaqMan PCR assays to detect circulating Aspergillus fumigatus DNA in serum.

TL;DR: Serum is recommended, stored and frozen as soon as possible, to be used for detecting circulating A. fumigatus DNA for diagnosis and the mitochondrial multicopy gene was characterized in order to compare results from different patients.
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Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

TL;DR: DNA-based prenatal diagnosis was performed for the first time in pregnancies at risk for CAC deficiency, and two fetuses were affected and one pregnancy was terminated by family decision.
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Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

TL;DR: The molecular basis of hereditary fructose intolerance (HFI) is investigated by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing, which allows to diagnose 75% of HFI patients using restriction enzymatic analysis and to enlarge the diagnosis to 97% when associated with direct sequencing.