PedAM
Pediatric Disease Annotations & Medicines
| Disease | pycnodysostosis |
| Phenotype | C0032827|k deficiency |
| Sentences | 1 |
| PubMedID- 20515459 | The present findings of an increased resorbed bone area in the presence of e64 correlate well with in vivo findings in mice, as well as in patients with pycnodysostosis, arising from cathepsin k deficiency, where demineralized areas are observed below the osteoclasts [28,29]. |
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