WordNet

the 9th letter of the Roman alphabet (同)i
any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

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1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
2. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 小児における聴覚障害：病因 hearing impairment in children etiology
5. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder

Delivery of therapeutic protein for prevention of neurodegenerative changes: Comparison of different CSF-delivery methods.

Marshall NR1, Hassiotis S2, King B2, Rozaklis T2, Trim PJ2, Duplock SK2, Winner LK2, Beard H2, Snel MF2, Jolly RD1, Hopwood JJ2, Hemsley KM3.
Experimental neurology.Exp Neurol.2015 Jan;263:79-90. doi: 10.1016/j.expneurol.2014.09.008. Epub 2014 Sep 22.
Injection of lysosomal enzyme into cisternal or ventricular cerebrospinal fluid (CSF) has been carried out in 11 lysosomal storage disorder models, with each study demonstrating reductions in primary substrate and secondary neuropathological changes, and several reports of improved neurological func
PMID 25246230

Savitha NS, Saurabh G1, Krishnamoorthy SH, Nandan S, Ambili A.
Journal of the Indian Society of Pedodontics and Preventive Dentistry.J Indian Soc Pedod Prev Dent.2015 Jan-Mar;33(1):66-8. doi: 10.4103/0970-4388.149011.
Hunter's syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs) characterized by involvement of nervous, cardiovascular, respiratory, and mucoskeletal systems along with numerous oral mani
PMID 25572378

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN1, Steglich C, Santer R, Lukacs Z, Gal A.
JIMD reports.JIMD Rep.2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.
BACKGROUND: As patients with different types of mucopolysaccharidosis (MPS) and mucolipidosis (ML) may present with overlapping clinical features - including coarse face, hepatosplenomegaly, bone dysplasia and claw-hand deformities, collectively also called 'MPS-like phenotype', enzymatic and/or mol
PMID 24798265