¼±Åà - È­»ìǥŰ/¿£ÅÍŰ ´Ý±â - ESC

 
"Maroteaux"¿¡ ´ëÇÑ ¼¼ºÎ °Ë»ö °á°úÀÔ´Ï´Ù
KMLE À¥ ¿ë¾î ¸ÂÃã °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
Maroteaux-Lamy syndrome Another name for mucopolysaccharidosis VI (MPS VI). The term Maroteaux-Lamy syndrome comes from the names of the two French scientists who first discovered MPS VI in 1963.
Ãâó: www.maroteaux-lamy.com/pc/about/Glossary.asp
Maroteaux-Lamy s. a mucopolysaccharidosis caused by deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B), and characterized biochemically by the predominance of dermatan sulfate in the urine and the presence of coarse metachromatic granules in the leukocytes, and clinically by Hurler-like signs with normal intelligence. There are three clinical forms: the severe or classic form shows Hurler-like symptoms; the intermediate form has the same phenotype as mucolipidosis III (pseudo-Hurler polydystrophy); the mild form is difficult to distinguish from the Scheie syndrome. Called also mucopolysaccharidosis VI and arylsulfatase B (ARSB) deficiency.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
ÀÌ ¾Æ·¡ ºÎÅÍ´Â °á°ú°¡ ¾ø½À´Ï´Ù.
KMLE À¥ ¿ë¾î À¯»ç °Ë»ö °á°ú : 0 ÆäÀÌÁö: 1
ÅëÇÕ°Ë»ö ¿Ï·á