New test aims to end diagnostic odyssey for rare disease families
NCT ID NCT03163771
Summary
This study tested a new strategy to diagnose rare genetic conditions called peroxisomal disorders more quickly and accurately. It involved 8 patients, both children and adults, who showed symptoms or had family history of these diseases. The approach used a broader set of initial lab tests and genetic analysis to try to shorten the often lengthy search for a correct diagnosis.
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Contacts and locations
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Locations
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Département de Pédiatrie, Unité de Génétique Clinique, CHU d'Amiens
Amiens, 80054, France
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Hôpital Jeanne de Flandres, CHRU
Lille, France
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Pédiatrie, CHU Clémenceau de Caen
Caen, 40433, France
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Pédiatrie, Pavillon Mère et Enfant, CHU Ch. Nicolle de Rouen
Rouen, 76031, France
Conditions
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