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Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
Download from academic.oup.comBi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
UploadThe Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine
Download from doi.orgMyalgia in 30 Patients with Suspected Myopathy
Download from doi.orgCamptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation
Download from doi.orgNormal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
Download from doi.orgLack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin
Download from link.springer.comFGF-21 as a Potential Biomarker for Mitochondrial Diseases
Download from eurekaselect.comStabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
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