Articles with "onset genetic" as a keyword



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Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

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Published in 2020 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12218

Abstract: Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are… read more here.

Keywords: leigh syndrome; onset genetic; age; genetic diagnosis ... See more keywords
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Evaluation and Management of Early Onset Genetic Obesity in Childhood.

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Published in 2021 at "Journal of pediatric genetics"

DOI: 10.1055/s-0041-1731035

Abstract: One in five children and adolescents in the United States are diagnosed with obesity and nearly 6% of them are being classified under the severe obesity category. With over 7% of severe obesity being attributed… read more here.

Keywords: early onset; onset genetic; management; management early ... See more keywords