mucopolysaccharidosis IV

Beta-galactosidase deficiency, Morquio syndrome Metabolic disease An AR mucopolysaccharidosis characterized by 6-sulfo-N-acetylhexosaminide sulfatase deficiency and excretion of keratan sulfate in urine Clinical coarse facies, short stature, skeletal and joint defects; onset after 1^st yr, life expectancy 20+ yrs; may be mentally normal. See Mucopolysaccharidosis; Beta-galactosidase.

mucopolysaccharidosis IV

Mucopolysaccharidosis due to a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase. Clinically, there are dwarfism, thoracolumbar gibbus (hunchback), kyphoscoliosis, coarse facies, cardiac lesions, moderate hepatosplenomegaly, and joint hypermobility. Synonym: chondro-osteodystrophy; Morquio's syndromeSee also: mucopolysaccharidosis

单词	mucopolysaccharidosis iv
释义	DictionarySeemucopolysaccharidosis mucopolysaccharidosis IV mucopolysaccharidosis IV Beta-galactosidase deficiency, Morquio syndrome Metabolic disease An AR mucopolysaccharidosis characterized by 6-sulfo-N-acetylhexosaminide sulfatase deficiency and excretion of keratan sulfate in urine Clinical coarse facies, short stature, skeletal and joint defects; onset after 1^st yr, life expectancy 20+ yrs; may be mentally normal. See Mucopolysaccharidosis; Beta-galactosidase. mucopolysaccharidosis IV Mucopolysaccharidosis due to a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase. Clinically, there are dwarfism, thoracolumbar gibbus (hunchback), kyphoscoliosis, coarse facies, cardiac lesions, moderate hepatosplenomegaly, and joint hypermobility. Synonym: chondro-osteodystrophy; Morquio's syndromeSee also: mucopolysaccharidosis
随便看	echeverria, esteban jose antonio echeverría alvarez, luis echeverría, esteban echeverría, esteban josé antonio echeverría álvarez, luis echevin echfa echg echh echho echhs echi echidna echidna arietans echidna aspis echidna daboya echidna elegans echidna gabonica echidna russellii echidnas echidnase echidna (synonym) echidna (synonymy) echidna (zoology) echidnin