Autosomal dominant osteopetrosis type II.

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Internal medicine

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.2169/INTERNALMEDICINE.50.6364PMID 22041388
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology.

  2005cited by this paper
• Osteopetrosis.

  2004cited by this paper
• Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

  2003influential reference
• Chloride Channel 7 (ClCN7) Gene Mutations and Autosomal Dominant Osteopetrosis, Type II

  2003cited by this paper
• Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.

  1995cited by this paper
• Collagen metabolism in two types of autosomal dominant osteopetrosis during stimulation with thyroid hormones.

  1995cited by this paper
• Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis.

  1993cited by this paper
• Infantile osteopetrosis complicating neuronal ceroid lipofuscinosis.

  1990cited by this paper
• The role of carbonic anhydrase in autosomal dominant osteopetrosis.

  1989influential reference
• Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

  1988cited by this paper
• Osteopetrosis: a case report including gross and microscopic findings in the mandible at autopsy.

  1988cited by this paper
• Autosomal dominant osteopetrosis

  1987cited by this paper
• Heterogeneity of autosomal dominant osteopetrosis.

  1987cited by this paper
• The determination of osteopetrotic phenotypes by selective inactivation of red cell carbonic anhydrase isoenzymes.

  1985cited by this paper
• Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

  1983cited by this paper
• Morphological evidence of reduced bone resorption in osteopetrotic (op) mice.

  1982cited by this paper
• OSTEOPETROSIS: Case Report, Autopsy Findings, and Pathological Interpretation

  1951cited by this paper

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  2018cites this paper
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  2016cites this paper
• [Marble bone disease: The role of SPECT/CT hybrid imaging].

  2016cites this paper
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