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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failred role in mitochondrial protein synthesis. . encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Sequence variants in . have previously been associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss (OMIM #615300). In tMultiple 发表于 2025-3-22 20:23:16
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease,from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD...: Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additMOTIF 发表于 2025-3-22 23:24:23
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