Results 41 to 50 of about 7,918 (168)
International Journal of Clinical Practice, 1998 SUMMARYOver a 10‐year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset ...
S A, al-Rasheed +7 more
openaire +2 more sources
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
Frontiers in Pediatrics, 2018 The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts.
Emanuela di Palmo +7 more
doaj +1 more source
Journal of Oral Rehabilitation, Volume 53, Issue 7, Page 1259-1274, July 2026.This multicenter retrospective study evaluated implant survival and peri‐implant health in adults with non‐syndromic intellectual disability. Among 453 implants with long‐term follow‐up, survival exceeded 92%, with tissue‐level implants and cement‐retained restorations associated with healthier peri‐implant conditions. These findings support the use of
Márcio Diniz‐Freitas +19 more
wiley +1 more source
Mycoses, Volume 69, Issue 7, July 2026.ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti +6 more
wiley +1 more source
A Case Report of Malignant Infantile Osteopetrosis
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2011 BACKGROUND AND OBJECTIVE: Infantile osteopetrosis is a rare genetic fetal and metabolic congenital osteo- disorder. It results from dysfunction or lack of osteoclasts. Most of patients die from anemia, bleeding and infection.
Khorashadizadeh F, Bayani Gh, Soltani Z
doaj
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, Volume 9, Issue 6, Page 1167-1179, June 2026.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Three cases of Osteopetrosis in a family
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2004 Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity.
N Nakhjavani
doaj
Infantile malignant osteopetrosis: A case report with review of literature
Journal of Indian Academy of Oral Medicine and Radiology, 2008 Osteopetrosis is a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues usually manifesting in two basic forms: an autosomal dominant benign form (osteopetrosis tarda) and an ...
Sunil Chaudhary, Arun Sharma
doaj +1 more source
Advanced Genetics, Volume 7, Issue 2, June 2026.This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley +1 more source
Case Reports in Orthopedics, 2014 Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. Bone resorption is insufficient or fails due to the osteoclast defect in osteopetrosis. Half of the patients are asymptomatic and diagnosed incidentally or based
Ahmet Aslan +6 more
doaj +1 more source