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Osteopetrosis

Known as: Disease, Albers-Schonberg, Osteosclerosis Fragilis, Marble bone disease 
A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused… 
National Institutes of Health

Related topics

Related topics

28 relations
ATP6V0A2 geneBone CystsCLCN7 geneCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS

Broader (4)

Bone DiseasesBone Diseases, DevelopmentalCongenital osteodystrophyOsteosclerosis

Narrower (9)

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and LymphedemaOSTEOPETROSIS, AUTOSOMAL DOMINANT 1OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3Osteopetrosis Autosomal Dominant Type 2

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
The calcite → aragonite transformation in low‐Mg marble: Equilibrium relations, transformation mechanisms, and rates
[1] Experimental transformation of a rather pure natural calcite marble to aragonite marble did not proceed via the expected… 
Review
2004
Review
2004
Treatment of Idiopathic Hyperphosphatasia With Intensive Bisphosphonate Therapy
In a family with IH, a rare high turnover bone disease, two older siblings were wheelchair‐bound with severe skeletal deformity… 
2004
2004
Effect of Additives on the Acid Dissolution Rates of Calcium and Magnesium Carbonates
A rotating-disk instrument was used to measure the dissolution rates of both calcite and dolomite rock samples in HCl solutions… 
Highly Cited
2003
Highly Cited
2003
Microstructures, petrofabrics and seismic properties of ultra high-pressure eclogites from Sulu region, China: implications for rheology of subducted continental crust and origin of mantle…
Highly Cited
1998
Highly Cited
1998
Hematopoietic stem cell transplantation for infantile osteopetrosis
Infantile osteopetrosis is a lethal disorder resulting from a severe defect in the ability of osteoclasts to resorb bone. The… 
Highly Cited
1995
Highly Cited
1995
Effects of vitamin D binding protein-macrophage activating factor (DBP-MAF) infusion on bone resorption in two osteopetrotic mutations.
Review
1993
Review
1993
Gene knockouts of c-src, transforming growth factor beta 1, and tenascin suggest superfluous, nonfunctional expression of proteins
H~ technology of gene targeting is still in its infancy, but one astonishing theme is being seen over and over. Disruption of a… 
Highly Cited
1991
Highly Cited
1991
Gene expression during skeletal development in three osteopetrotic rat mutations. Evidence for osteoblast abnormalities.
Highly Cited
1981
Highly Cited
1981
Circulating thymic hormone activity in patients with primary and secondary immunodeficiency diseases.
Highly Cited
1965
Highly Cited
1965
MYELOMATOUS OSTEOSCLEROSIS AND PERIPHERAL NEUROPATHY.
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