High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K

Osteoporosis International

Volumn 18, Issue 5, 2007, Pages 659-669

  Schilling, A F ^a   Mulhausen C ^a   Lehmann, W ^a   Santer, R ^a   Schinke, T ^a   Rueger, J M ^a   Amling, M ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Cathepsin K; Osteopetrosis; pQCT; Pycnodysostosis; vBMD

Indexed keywords

ALKALINE PHOSPHATASE BONE ISOENZYME; BIOLOGICAL MARKER; CATHEPSIN K; DEOXYPYRIDINOLINE; GENOMIC DNA;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; BONE DENSITY; BONE MINERALIZATION; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; COMPUTED TOMOGRAPHY SCANNER; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER PROGRAM; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORTICAL BONE; CROSS LINKING; DNA EXTRACTION; DYSOSTOSIS; EXON; FEMALE; FOOT MALFORMATION; FRACTURE; GENE AMPLIFICATION; GENETIC CODE; HAND MALFORMATION; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; LONG BONE; LUMBAR SPINE; MALE; MAXILLA HYPOPLASIA; MISSENSE MUTATION; OSTEOMALACIA; PRIORITY JOURNAL; PYKNODYSOSTOSIS; QUANTITATIVE ANALYSIS; RADIUS; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SIBLING; SKULL DEFECT; SPONDYLOSIS; TRABECULAR BONE; URINALYSIS; X RAY ANALYSIS;

ADOLESCENT; ALKALINE PHOSPHATASE; AMINO ACIDS; BIOLOGICAL MARKERS; BODY HEIGHT; BONE DENSITY; CATHEPSINS; CHILD; DENSITOMETRY, X-RAY; FEMALE; FRACTURES, BONE; HUMANS; LUMBAR VERTEBRAE; MALE; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; OSTEOPETROSIS; PEDIGREE; RADIUS; SPONDYLOLYSIS; SYNDROME;

EID: 34047121220     PISSN: 0937941X     EISSN: 14332965     Source Type: Journal    
DOI: 10.1007/s00198-006-0311-y     Document Type: Article

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