Inborn errors of metabolisms characterized by bone diseases
HUANG Yong-lan
Abstract：Inborn errors of metabolism (IEM) are rare conditions that represent more than 750 diseases.Most are inherited as an autosomal recessive trait.In this article we document the IEM characterized by bone metabolism disorders in children,focusing on more common and treatable conditions,such as richets,osteomalacia,osteoporosis and osteopetrosis.Most of these conditions involve metabolic disorders of calcium,phosphate,vitamin D,PTH,alkaline phosphatase and lysosomal.
Keywords：inborn errors of metabolismbone diseasediagnosistreatment
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 664-669 )