pseudopolydystrophy

mu·co·lip·i·do·sis III

[MIM*252600, MIM*252605] mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts; lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. Synonym(s): pseudo-Hurler polydystrophy, pseudopolydystrophy

pseudopolydystrophy

(1) Mucolipidosis III alpha/beta, see there.
(2) Mucolipidosis III gamma, see there.

单词	pseudopolydystrophy
释义	pseudopolydystrophy mu·co·lip·i·do·sis III [MIM252600, MIM252605] mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts; lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. Synonym(s): pseudo-Hurler polydystrophy, pseudopolydystrophy pseudopolydystrophy (1) Mucolipidosis III alpha/beta, see there. (2) Mucolipidosis III gamma, see there.
随便看	nsgctt nsgd nsgdp nsge nsgea nsgef nsgeu nsgf nsgg nsgi nsgic nsginst nsgip nsgl nsglc nsglp nsgm nsgml nsgn nsgna nsgnsncno nsgo nsgp nsgpa nsgpr