About 620 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  242 results

Clinical and molecular characterization of five Chinese patients with autosomal recessi...
Molecular Genetics & Genomic Medicine; Liang H, Li N et. al.

Sep 22nd, 2021 - Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of t...

Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrot...
Bone Alam I, Gerard-O'Riley RL et. al.

Sep 1st, 2021 - Autosomal Dominant Osteopetrosis type II (ADO2) is a bone disease of impaired osteoclastic bone resorption that usually results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene. We created mouse models of ADO2 by introdu...

A successful implant-supported fixed prosthesis in a patient with osteopetrosis: A clin...
The Journal of Prosthetic Dentistry; Mills CB, Steinberg J et. al.

Jul 22nd, 2021 - Osteopetrosis (marble bone disease) is a family of rare genetic disorders characterized by impaired osteoclast function leading to hyperdense, hypovascular, brittle bone. Typical imaging shows increased bone mass and thickened cortical and trabecu...

Haploidentical haematopoietic stem cell transplantation for malignant infantile osteope...
Orphanet Journal of Rare Diseases; Zhu G, Wei A et. al.

Jul 17th, 2021 - To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis. Children with MIOP and IOP who underwent haplo-...

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Drugs  2 results see all →

News  4 results

Rare Disease Treatments Make Up Top 10 Most Costly Drugs

May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...

A 49-Year-Old Man With Pain at the Site of a Previous Fracture

Jan 14th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...

HLA-matched sibling transplants provide best outcomes in infantile osteopetrosis
Lucas Franki

Jul 18th, 2015 - Long-term survival after hematopoietic stem cell transplantation for infantile osteopetrosis was highest when grafts were taken from human leukocyte antigen (HLA)-matched siblings, according to the largest cohort of patients with the disease that.

Pyle-type Metaphyseal Dysplasia

Diagnosis Pyle-type metaphyseal dysplasia (or Pyle's disease) Differential diagnosis: Chronic anemia (e.g. Sickle-cell disease), osteopetrosis, Gaucher disease and Niemann-Pick disease.

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