シアリダーゼ欠損症
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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English Journal
- Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
- Kwak JE1, Son MY2, Son YS1, Son MJ2, Cho YS3.
- Biochemical and biophysical research communications.Biochem Biophys Res Commun.2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
- Lysosomes are cytoplasmic compartments that contain many acid hydrolases and play critical roles in the metabolism of a wide range of macromolecules. Deficiencies in lysosomal enzyme activities cause genetic diseases, called lysosomal storage disorders (LSDs). Many mutations have been identified in
- PMID 25600812
- Deficiency of antigen-specific B cells results in decreased Trypanosoma cruzi systemic but not mucosal immunity due to CD8 T cell exhaustion.
- Sullivan NL1, Eickhoff CS2, Sagartz J3, Hoft DF4.
- Journal of immunology (Baltimore, Md. : 1950).J Immunol.2015 Feb 15;194(4):1806-18. doi: 10.4049/jimmunol.1303163. Epub 2015 Jan 16.
- Vaccines against mucosally invasive, intracellular pathogens must induce a myriad of immune responses to provide optimal mucosal and systemic protection, including CD4(+) T cells, CD8(+) T cells, and Ab-producing B cells. In general, CD4(+) T cells are known to provide important helper functions for
- PMID 25595788
- Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease.
- Shillingford NM1, Calicchio ML, Teot LA, Boyd T, Kurek KC, Goldsmith JD, Bousvaros A, Perez-Atayde AR, Kozakewich HP.
- The American journal of surgical pathology.Am J Surg Pathol.2015 Feb;39(2):245-50. doi: 10.1097/PAS.0000000000000355.
- Microvillus inclusion disease (MVID) is a rare congenital disorder that manifests early in infancy as intractable watery diarrhea. The entity is characterized morphologically by a deficient brush border and apical cytoplasmic inclusions within absorptive cells (enterocytes) due to misplaced assembly
- PMID 25517957
Japanese Journal
- Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation
- 抗ネオグリコリピドモノクローナル抗体を用いたリソソーム性シアリダーゼ欠損症の免疫細胞化学的解析
- 伊藤 孝司,小沢 秀樹,川島 育夫,田井 直,桜庭 均
- 日本先天代謝異常学会雑誌 12(2), 172, 1996-10-15
- NAID 10018939387
- GM1-gangliosidosisおよびTay-Sachs病の脳組織における異所性糖脂質発現に関する研究
- 舘 睦子
- 1989-04-01
- … The accumulation of Gg4Cer in the GM1-gang-liosidosis brains seemed to be caused not only by catabolic β-galactosidase deficiency, but also by a higher level of Gg4Cer synthase and sialidase which forms Gg4Cer from GM1. …
- NAID 120001796725
Related Links
- Sialidase deficiency symptoms, causes, diagnosis, and treatment information for Sialidase deficiency (Neuraminidase deficiency) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and ...
- 256550 - NEURAMINIDASE DEFICIENCY - SIALIDOSIS, TYPE II;; MUCOLIPIDOSIS I;; ML I;; LIPOMUCOPOLYSACCHARIDOSIS;; SIALIDASE DEFICIENCY;; GLYCOPROTEIN NEURAMINIDASE DEFICIENCY;; NEUG ... Contributors:
★リンクテーブル★
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- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
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シアリダーゼ
- 関
- neuraminidase