Mucopolysaccharidosis VI

Mucopolysaccharidosis VI

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB =
ICD10 = ICD10|E|76|2|e|70
ICD9 = ICD9|277.5
ICDO =
OMIM = 253200
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1373
MeshID = D009087

Mucopolysaccharidosis VI (or Maroteaux-Lamy disease) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).cite journal |author=Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L |title=Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene |journal=Mol. Genet. Metab. |volume=94 |issue=3 |pages=305–12 |year=2008 |month=July |pmid=18406185 |doi=10.1016/j.ymgme.2008.02.012 |url=http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(08)00057-7]

Eponym

It is named for Pierre Maroteaux and Maurice Lamy. [WhoNamedIt|synd|1619] cite journal |author=MAROTEAUX P, LEVEQUE B, MARIE J, LAMY M |title= [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B.] |language=French |journal=Presse Med |volume=71 |issue= |pages=1849–52 |year=1963 |month=September |pmid=14091597 |doi= |url=]

References


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