Articles with "biochemical phenotype" as a keyword



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Quantitative 18F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype

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Published in 2017 at "European Journal of Nuclear Medicine and Molecular Imaging"

DOI: 10.1007/s00259-017-3833-y

Abstract: Introduction18F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between 18F-FDOPA quantitative parameters and a PHEO secretory profile has not been specifically evaluated.Materials and methodsFifty-six patients (56%… read more here.

Keywords: pet; 18f fdopa; biochemical phenotype; correlation ... See more keywords
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Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the “Variant” Biochemical Phenotype of Niemann-Pick Type C1 Disease

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Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms222212184

Abstract: Niemann–Pick disease type C1 (NP-C1) is a rare lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 gene. Patients display a wide spectrum on the clinical as well as on the molecular level,… read more here.

Keywords: disease; biochemical phenotype; variant biochemical; g992r ... See more keywords