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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease kennedy disease
Comorbidity C0020501|primary hyperoxaluria
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PubMedID- 19104842 In specific cases further blood analyses for parathyroid hormone (pth), vitamin d metabolites, vitamin a (for patients with hypercalciuria), serum vitamin b6 levels and plasma oxalate (for patients with primary hyperoxaluria) and, of course, molecular genetic testing (see tables 1 and 2) will later be necessary.

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