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

Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine.

Coppa GV1, Gabrielli O1, Zampini L1, Maccari F2, Mantovani V2, Galeazzi T1, Santoro L1, Padella L1, Marchesiello RL1, Galeotti F2, Volpi N3.
Metabolic brain disease.Metab Brain Dis.2015 Dec;30(6):1343-8. doi: 10.1007/s11011-015-9684-y. Epub 2015 May 29.
Mucopolysaccharidoses (MPS) are characterized by mental retardation constantly present in the severe forms of Hurler (MPS I), Hunter (MPS II) and Sanfilippo (MPS III) diseases. On the contrary, mental retardation is absent in Morquio (MPS IV) and Maroteaux-Lamy (MPS VI) diseases and absent or only m
PMID 26016623

Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.

Choi Y1, Tuzikov AB2, Ovchinnikova TV2, Bovin NV2, Pshezhetsky AV3.
JIMD reports.JIMD Rep.2015 Oct 23. [Epub ahead of print]
Heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT) catalyzes the transmembrane acetylation of heparan sulfate in lysosomes required for its further catabolism. Inherited deficiency of HGSNAT in humans results in lysosomal storage of heparan sulfate and causes severe neurodegene
PMID 26493749

Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network.

Salazar DA1, Rodríguez-López A2, Herreño A3, Barbosa H3, Herrera J3, Ardila A4, Barreto GE1, González J5, Alméciga-Díaz CJ6.
Molecular genetics and metabolism.Mol Genet Metab.2015 Aug 7. pii: S1096-7192(15)30036-6. doi: 10.1016/j.ymgme.2015.08.001. [Epub ahead of print]
Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases (LSD), characterized by the deficiency of a lysosomal enzyme responsible for the degradation of glycosaminoglycans (GAG). This deficiency leads to the lysosomal accumulation of partially degraded GAG. Nevertheless, deficiency of a
PMID 26276570

Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status