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2024
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2022
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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Not available
S-EPMC9479237
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biostudies-literature
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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
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S-EPMC11555972
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biostudies-literature
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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
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S-EPMC11874059
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biostudies-literature
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