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Your search keyword '"Latour, Philippe"' showing total 7 results
Start Over Author "Latour, Philippe" Publisher lippincott williams & wilkins
7 results on '"Latour, Philippe"'

1. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

Author

Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, and Latour, Philippe

Published
2023
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2. Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Author

Patterson, Marc C., Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M., Ory, Daniel S., Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T., Walterfang, Mark, and Marquardt, Thorsten

Subjects
Review
Abstract

Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified. Summary: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.

Published
2017

5. Author response.

Author

Echaniz-Laguna, Andoni and Latour, Philippe

Published
2014

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