Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
MONDO:0100265Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.
Also known as: peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
8 clinical trials for this condition and its sub-types, 0 tagged with Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain itself.
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Sub-types of Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 08:02 UTC