WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
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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. Attention deficit hyperactivity disorder in children and adolescents: Clinical features and diagnosis
English Journal
- Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C.
- Pshezhetsky AV1.
- Autophagy.Autophagy.2016 Jun 2;12(6):1059-1060. Epub 2015 May 22.
- The genetic metabolic disease mucopolysaccharidosis III type C (MPS IIIC, Sanfilippo disease type C) causes progressive neurodegeneration in infants and children, leading to dementia and death before adulthood. MPS IIIC stands out among lysosomal diseases because it is the only one caused by a defic
- PMID 25998837
- The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.
- Kadali S1, Patlolla RD1, Kolusu A1, Undamatla KT1, Gummadi MR1, Undamatla J2.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2016 Jun 1;457:36-40. doi: 10.1016/j.cca.2016.03.007. Epub 2016 Mar 17.
- BACKGROUND: Mucopolysaccharidoses are a group of inherited lysosomal storage disorders consisting of 7 distinct clinical types and numerous subtypes. These are the result of deficiency of certain lysosomal degradative enzymes which are required to breakdown Glycosaminoglycans. The clinical features
- PMID 26995660
- Glycosaminoglycans and mucopolysaccharidosis type III.
- Jakobkiewicz-Banecka J1, Gabig-Ciminska M2, Kloska A1, Malinowska M1, Piotrowska E1, Banecka-Majkutewicz Z3, Banecki B4, Wegrzyn A2, Wegrzyn G5.
- Frontiers in bioscience (Landmark edition).Front Biosci (Landmark Ed).2016 Jun 1;21:1393-409.
- Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes cod
- PMID 27100513
Japanese Journal
- 遺伝性ムコ多糖代謝異常症の肝におけるヘパラン硫酸のHeterogeneityに関する研究
- 1985-12-02
- NAID 120001797201
Related Links
- Sanfilippo syndrome is a progressive disorder, meaning that at birth the children appear typical and do not show signs of the disorder. As the disease progresses the children degenerate, losing the ability to speak, walk, eat and ...
- Sanfilippo Syndrome. 392 likes · 4 talking about this. Sanfilippo Syndrome Explained ... I am looking for more pictures of my friends and family supporting Emily and all of our MPS family!! One picture of one plank is all I'm asking! If ...
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「syndrome」
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