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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/11/19 21:11:03」(JST)
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- 1. 遺伝性運動失調の概要 overview of the hereditary ataxias
- 2. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
- 3. 先天性代謝異常：分類 inborn errors of metabolism classification
- 4. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
- 5. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
English Journal
- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
- Schene IF1, Ayuso VK, de Sain-van der Velden M, van Gassen KL, Cuppen I, van Hasselt PM, Visser G.
- JIMD reports.JIMD Rep.2015 Jul 5. [Epub ahead of print]
- Neuraminidase deficiency (mucolipidosis I, sialidosis types I and II, cherry-red spot myoclonus syndrome) is a lysosomal storage disorder with an expanding clinical phenotype. Here, we report the striking diagnostic history of late-onset neuraminidase deficiency in two sisters, currently aged 14 (pa
- PMID 26141460
- Neuraminidase-1 mediates skeletal muscle regeneration.
- Neves JC1, Rizzato VR1, Fappi A1, Garcia MM1, Chadi G1, van de Vlekkert D2, d'Azzo A2, Zanoteli E3.
- Biochimica et biophysica acta.Biochim Biophys Acta.2015 May 19;1852(9):1755-1764. doi: 10.1016/j.bbadis.2015.05.006. [Epub ahead of print]
- Neuraminidase-1 (NEU1) is the sialidase responsible for the catabolism of sialoglycoconjugates in lysosomes. Congenital NEU1 deficiency causes sialidosis, a severe lysosomal storage disease associated with a broad spectrum of clinical manifestations, which also include skeletal deformities, skeletal
- PMID 26001931
- Valproic acid induces neuronal cell death through a novel calpain-dependent necroptosis pathway.
- Bollino D1, Balan I, Aurelian L.
- Journal of neurochemistry.J Neurochem.2015 Apr;133(2):174-86. doi: 10.1111/jnc.13029. Epub 2015 Feb 8.
- A growing body of evidence indicates that valproic acid (VPA), a histone deacetylase inhibitor used to treat epilepsy and mood disorders, has histone deacetylase-related and -unrelated neurotoxic activity, the mechanism of which is still poorly understood. We report that VPA induces neuronal cell de
- PMID 25581256
Japanese Journal
- Quantification of free and total sialic acid excretion by LC-MS/MS
- VAN DER HAM Maria,PRINSEN Berthil H. C. M. T.,HUIJMANS Jan G. M.,ABELING Nicolaas G. G. M.,DORLAND Bert,BERGER Ruud,DE KONING Tom J.,DE SAIN-VAN DER VELDEN Monique G. M.
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 848(2), 251-257, 2007-04-01
- NAID 10025793831
- Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement
- Oheda Y,Kotani M,Murata M,Sakuraba H,Kadota Y,Tatano Y,Kuwahara J,Itoh K
- GLYCOBIOLOGY 16(4), 271-280, 2006-00-00
- NAID 120004427774
- 中年で発症したシアリドーシスI型の1例
- 坂爪 由夏,田中 真,磯部 逸夫,冨永 里香,難波 栄二,岡本 幸市
- 臨床神経学 : CLINICAL NEUROLOGY 44(8), 541-544, 2004-08-01
- NAID 10013503464
Related Links
- Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme sialidase. The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as ...
- Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
Related Pictures
★リンクテーブル★
| リンク元 | 「ムコリピドーシスIII型」「シアリドーシス」「mucolipidosis type II」「mucolipidosis type IV」「mucolipidosis type I」 |
| 拡張検索 | 「severe infantile sialidosis」「congenital sialidosis」 |
「ムコリピドーシスIII型」
- 英
- mucolipidosis type III、mucolipidosis III, mucolipidosis type 3
- 同
- ムコ脂質症3型、ムコ脂質症III型、偽性ハーラー・ポリジストロフィー 偽性Hurlerポリジストロフィー pseudo-Hurler polydystrophy、さくらんぼ赤色斑ミオクローヌス症候群 cherry red spot myoclonus syndrome
- 関
- ムコリピドーシス ムコリピド症 mucolipidosis、シアリドーシス sialidosis
- 英
- cherry red spot myoclonus syndrome
- 関
- I細胞病、ムコリピドーシス、シアリドーシス、ムコリピドーシスIV型、ムコ脂質症I型、ムコリピドーシスI型、ムコ脂質症II型、ムコリピドーシスII型、ムコ脂質症III型、ムコリピドーシスIII型、偽性ハーラー・・リジストロフィー、ムコリピド症
「シアリドーシス」
- 英
- sialidosis
- 関
- I細胞病、ムコリピドーシス、ムコリピドーシスIV型、ムコ脂質症I型、ムコリピドーシスI型、ムコ脂質症II型、ムコリピドーシスII型、ムコ脂質症III型、ムコリピドーシスIII型、偽性ハーラー・ポリジストロフィー、さくらんぼ赤色斑ミオクローヌス症候群、ムコリピド症
- ノイラミニダーゼ
「mucolipidosis type II」
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis
「mucolipidosis type IV」
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type II、mucolipidosis type III、pseudo-Hurler polydystrophy、sialidosis
「mucolipidosis type I」
- 関
- cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type II、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis