β-ガラクトシダーゼ欠損症
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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Japanese Journal
- Morphological Analysis of Corneal Opacity in Shiba Dog with GM1 Gangliosidosis(Anatomy)
- NAGAYASU Aya,NAKAMURA Taito,YAMATO Osamu,TSUZUKI Keiko,HOSAKA Yoshinao,UEDA Hiromi,TANGKAWATTANA Prasarn,TAKEHANA Kazushige
- The journal of veterinary medical science 70(9), 881-886, 2008-09-25
- … GM1 gangliosidosis is one of the inherited metabolic lysosomal storage disorders characterized by neurological symptoms caused by β-galactosidase deficiency and consequent accumulation of GM1 ganglioside in neuronal cells, Shiba dogs affected with GM1 gangliosidosis have been found to suffer from corneal opacity. …
- NAID 110006946001
- Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis : possible use for assessment of a therapeutic regimen
- Satoh Hiroyuki,Yamato Osamu,Asano Tomoya,Yonemura Madoka,Yamauchi Toyofumi,Hasegawa Daisuke,Orima Hiromitsu,Arai Toshiro,Yamasaki Masahiro,Maede Yoshimitsu
- Brain Research 1133(1), 200-208, 2007-02-16
- … GM1 gangliosidosis, a lysosomal storage disease that affects the brain and multiple systemic organs, is due to an autosomal recessively inherited deficiency of acid β-galactosidase activity. …
- NAID 120000965135
Related Links
- β-Galactosidase Deficiency in Colombia
- Title β-Galactosidase deficiency: An approach to chaperone therapy Journal Journal of Inherited Metabolic Disease Volume 29, Issue 2-3 , pp 471-476 Cover Date 2006-04-01 DOI 10.1007/s10545-006-0287-y Print ISSN 0141-8955
★リンクテーブル★
[★]
- 英
- GM1-gangliosidosis, GM1 gangliosidosis gangliosidosis GM1
- 同
- β-ガラクトシダーゼ欠損症 β-galactosidase deficiency
- 関
- ガングリオシドーシス
[★]
- 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