Type II autosomal dominant osteopetrosis

Rheumatology International

Volumn 22, Issue 3, 2002, Pages 116-118

  Senel, Kazim ^a,b   Ugur, Mahir ^a,b   Erdal, Akin ^a,b   Özdemir, Hasan ^b  

^a ATATURK UNIVERSITY   (Turkey)

^b ATATÜRK UNIVERSITY   (Turkey)

Author keywords

Autosomal dominant osteopetrosis; Bone resorption; Genetic etiology

Indexed keywords

ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DENSITY; CASE REPORT; CORTICAL BONE; GENETIC DISORDER; HUMAN; ILEUM; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOSCLEROSIS; PRIORITY JOURNAL; RADIOGRAPHY; VERTEBRA BODY;

ADULT; BONE DENSITY; GENES, DOMINANT; HUMANS; ILIUM; MAGNETIC RESONANCE IMAGING; MALE; OSTEOPETROSIS; SPINE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036375255     PISSN: 01728172     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00296-002-0200-4     Document Type: Article

References (14)

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3. Röntgenbilder einer seltenen knochenerkrankung
4. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis
5. The determination of osteopetrotic phenotypes by selective inactivation of red cell carbonic anhydrase isoenzymes
6. Autosomal dominant osteopetrosis
7. Morphological evidence of reduced bone resorption in osteopetrotic mice
8. Carbonic anhydrase inhibitors, parathyroid hormone and calcium metabolism
9. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
10. The role of carbonic anhydrase in autosomal dominant osteopetrosis
11. Heterogeneity of autosomal dominant osteopetrosis
12. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
13. Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis
14. Collagen metabolism in two types of autosomal dominant osteopetrosis during stimulation with thyroid hormones