Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare, autosomal recessive, multisystemic inborn errors of branched chain amino acid metabolism which cause significant morbidity and mortality in infancy and childhood, and, for survivors, significant debilitating end-organ damage into adulthood.
Rare congenital sporadic disorder defined by the triad of polyostotic fibrous dysplasia of bone (FD), café au lait skin pigmentation, and peripheral precocious puberty (PP).
Genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. Physiology Cilia structure:Cilia are hair-like organelles projecting from the apical surface of polarized cells. Whether……
Histological staining is a series of technique processes undertaken in the preparation of sample tissues by staining using histological stains to aid in the microscope study.