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Gecombineerde oxidatieve fosforylatiedeficiëntie type 7
Gecombineerde oxidatieve fosforylatiedeficiëntie type 8

Traduction de «gecombineerde oxidatieve fosforylatiedeficiëntie type 8 » (Néerlandais → Anglais) :

gecombineerde oxidatieve fosforylatiedeficiëntie type 8

A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardi


gecombineerde oxidatieve fosforylatiedeficiëntie type 15

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordi


gecombineerde oxidatieve fosforylatiedeficiëntie type 7

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as




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Date index: 2024-02-19
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