Infantile cardiomyopathy
National Institutes of Health
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Abstract Mitochondrial complex I, a proton‐pumping NADH: ubiquinone oxidoreductase, is required for oxidative phosphorylation…
Paediatric cardiomyopathy (PC) has multiple genetic causes and can present in infancy with cardiac failure and sudden death…
Summaryα-N-Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms…
The major goal of this study was to elucidate how troponin T (TnT) dilated cardiomyopathy (DCM) mutations in fetal TnT and fetal…
Glycogen storage disease type II (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death…
other disorders of branched-chain amino acid metabolism, and is thought to be due to bone marrow hypoplasia resulting from…
A case of Infantile cardiomyopathy in a year and four months old girl, which was clinically characterized by tachycardia…
The GM1 gangliosidoses are clinically characterized by the combination of a degenerative process in the brain and of storage…
Skeletal or cardiac muscle fibers can be separated by brief (3--5 second) dissociation of formalin-fixed pieces with a Willems…