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Article

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

The Journal of clinical endocrinology and metabolism - 1 Apr 2004

Fratzl-Zelman Nadja, Valenta Angelika, Roschger Paul, Nader Alexander, Gelb Bruce D, Fratzl Peter, Klaushofer Klaus

Abstract excerpt

Pycnodysostosis is an uncommon human genetic disorder characterized by osteosclerosis of the skeleton, short stature, and bone fragility. The disease results from mutations in the cathepsin K gene, a lysosomal cysteine protease highly expressed in osteoclasts and crucial for the degradation of or...

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Source

Identifiers

PMID: 15070910
DOI: 10.1210/jc.2003-031055

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15070910-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.PMID 15070910Read ↗

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Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.Semantic proximity Read ↗

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