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About 795 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  299 results

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Invo...
https://doi.org/10.1007/s00223-022-00988-8 10.1148/rg.317115093 10.1016/8756-3282(88)90021-X 10.1359/jbmr.2003.18.10.1740 10.1002/humu.21167 10.1093/hmg/10.25.2861 10.1016/j.bone.2007.08.029 10.1016/S0092-8674(01)00206-9 10.1242/dmm.048940 10.1007/s10354-015-0369-2 10.1002/ajmg.a.38830 10.1016/j.bone.2018.10.008 10.1002/jbmr.2003 10.1038/nature19057 10.1038/nature15393 10.1007/s00774-009-0051-0 10.1093/nar/gkg616 10.1074/jbc.M113.461848 10.1016/S8756-3282(98)00112-4 10.1016/S8756-3282(02)00973-0 10.1038/nmeth.2089 10.1002/jbmr.3180 10.1016/j.jsb.2020.107556 10.1002/jbmr.4462 10.1038/nm.1917 10.1242/jcs.259040 10.1186/gb-2003-4-11-r72 10.1093/nar/gks539 10.1530/EJE-13-0136 10.1136/jcp.47.6.529 10.2106/00004623-197860050-00001 10.1002/jemt.10375 10.1002/ar.1092020403 10.1002/ar.a.20214 10.1016/8756-3282(93)90316-3 10.1016/S8756-3282(00)00330-6 10.1016/j.bone.2018.02.004 10.1007/s00198-012-1915-z 10.1002/jbmr.320 10.1002/jbmr.1567 10.1002/jbmr.2324 10.1016/j.bone.2019.03.018 10.1016/j.jsb.2020.107616 10.1530/EC-19-0531 10.1002/jbmr.2100 10.1359/jbmr.2003.18.6.1012 10.1016/j.matbio.2007.07.006 10.1016/j.bone.2007.10.021 10.1098/rstb.1984.0042 10.1016/j.bone.2019.07.015
Calcified Tissue International; Hofstaetter JG, Atkins GJ et. al.

May 27th, 2022 - Osteopetrosis is a heterogeneous group of rare hereditary diseases characterized by increased bone mass of poor quality. Autosomal-dominant osteopetrosis type II (ADOII) is most often caused by mutation of the CLCN7 gene leading to impaired bone r...

Heinrich Ernst Albers-Schönberg, 1865-1921.
https://doi.org/10.1055/s-0042-1742705
Seminars in Musculoskeletal Radiology; Heuck A, Goller SS

May 25th, 2022 - This history page in the series "Leaders in Musculoskeletal Radiology" is dedicated to the memory and achievements of the German physician Heinrich Albers-Schönberg, a pioneer of radiology whose name is connected to the medical eponym Albers-Schön...

Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric ca...
https://doi.org/10.1136/bcr-2021-246789
BMJ Case Reports; Chundoo S, McGoldrick DM et. al.

May 14th, 2022 - Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infect...

Alterations in Hematopoietic and Mesenchymal Stromal Cell Components of the Osteopetrot...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8969067
Stem Cells Translational Medicine; Zeytin IC, Alkan B et. al.

Apr 1st, 2022 - Osteopetrosis is a rare inherited disease characterized by impaired osteoclast activity causing defective bone resorption and bone marrow aplasia. It is fatal in early childhood unless hematopoietic stem cell transplantation is performed. But, the...

Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recess...
https://doi.org/10.1016/j.bone.2022.116397
Bone Dudiki T, Nascimento DW et. al.

Mar 29th, 2022 - The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of com...

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Drugs  2 results see all →

Clinicaltrials.gov  11 results

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
https://clinicaltrials.gov/ct2/show/NCT02171104

Nov 5th, 2021 - This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with b...

A Trial to Evaluate Safety and Efficacy of RP-L401-0120 in Subjects With Infantile Malignant Osteopetrosis
https://clinicaltrials.gov/ct2/show/NCT04525352

Aug 24th, 2021 - This is a non-randomized Phase 1 study to evaluate the preliminary safety and efficacy of hematopoietic gene therapy consisting of autologous CD34+ enriched hematopoietic cells transduced with the lentiviral vector (LV) carrying the human TCIRG1 t...

Open Trail of γIFN for Friedreich Ataxia
https://clinicaltrials.gov/ct2/show/NCT03888664

Feb 26th, 2020 - Friedreich ataxia (FRDA) is a devastating neurodegenerative disease that affects children and young adults. Patients become progressively unable to coordinate movements and walking until severe disability ensues. Most patients develop dilated card...

Allogeneic Transplantation For Severe Osteopetrosis
https://clinicaltrials.gov/ct2/show/NCT00775931

Jul 31st, 2019 - This revised transplant protocol will test the following: 1) the ability to achieve engraftment with the reduced intensity protocol and a second infusion of stem cells on day 42, 2) the mortality associated with transplant by day 100, 3) patient o...

ACTIMMUNE in Intermediate Osteopetrosis
https://clinicaltrials.gov/ct2/show/NCT02666768

Jul 2nd, 2019 - Osteopetrosis is a rare inherited metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mass and mineral density (BMD). In patients with severe disease, this high bone...

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News  6 results

Rare Disease Treatments Make Up Top 10 Most Costly Drugs
https://www.staging.medscape.com/viewarticle/879422

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...

Rare Disease Treatments Make Up Top 10 Most Costly Drugs
https://www.medscape.com/viewarticle/879422

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
https://reference.medscape.com/viewarticle/857143_5

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
https://www.mdedge.com/rheumatology/article/101309/transfusion-medicine/hla-matched-sibling-transplants-provide-best
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.

HLA-matched sibling transplants provide best outcomes in infantile osteopetrosis
https://www.mdedge.com/endocrinology/article/101309/transfusion-medicine/hla-matched-sibling-transplants-provide-best
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.

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