Myopathy, lactic acidosis, and sideroblastic anemia 1
MONDO:0024553Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.
Also known as: PUS1 myopathy, lactic acidosis, and sideroblastic anaemia, PUS1 myopathy, lactic acidosis, and sideroblastic anemia, myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1, myopathy, lactic acidosis, and sideroblastic anemia 1, myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1, MLASA1, mitochondrial myopathy and sideroblastic anaemia, mitochondrial myopathy and sideroblastic anemia
25 clinical trials for this condition and its sub-types.
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC