Ontology highlight
ABSTRACT:
SUBMITTER: Penna S
PROVIDER: S-EPMC8188884 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
Penna Sara S Villa Anna A Capo Valentina V
Disease models & mechanisms 20210510 5
Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, which hamper the quality of patients' lives and cause death in the first 10 years of age. This Review describes the pathogenesis of ARO and highlights the strengths and weaknesses of the current standard of care, namely hematopoietic stem cell transplantati ...[more]