Titlebook: JIMD Reports, Volume 28; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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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 t

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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 addit

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