cherry red spot myoclonus syndrome

出典: meddic

さくらんぼ赤色斑ミオクローヌス症候群

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英文文献

  • 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
  • G Protein-Coupled Receptor and RhoA-Stimulated Transcriptional Responses: Links to Inflammation, Differentiation, and Cell Proliferation.
  • Yu OM1, Brown JH2.
  • Molecular pharmacology.Mol Pharmacol.2015 Jul;88(1):171-80. doi: 10.1124/mol.115.097857. Epub 2015 Apr 22.
  • The low molecular weight G protein RhoA (rat sarcoma virus homolog family member A) serves as a node for transducing signals through G protein-coupled receptors (GPCRs). Activation of RhoA occurs through coupling of G proteins, most prominently, G12/13, to Rho guanine nucleotide exchange factors. Th
  • PMID 25904553
  • 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

和文文献

  • シアリドーシスI型(cherry-red spot-myoclonus症候群)成人発症同胞例
  • 田名 毅,小嶺 幸弘,神里 尚美,川副 信行,柊山 幸志郎
  • 臨床神経学 35(7), 803-805, 1995-07-01
  • NAID 10008313598
  • Multimodality evoked potentials and EEG in a case of cherry red spot-myoclonus syndrome and alphaneuraminidase deficiency (sialidosis type 1)

関連リンク

cher·ry-red spot my·oc·lo·nus syn·drome a neuronal storage disorder in children characterized by a cherry-red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type I is ...
Define Cherry Red Spot Myoclonus Syndrome: An autosomal recessive condition characterised by a deficiency of -N-acetylneuraminidase, most common in the Japanese, with a preadolescent onset Cherry Red Spot Myoclonus ...

関連画像

Cherry Red Spot| JAMA Ophthalmology | Cherry Red Spot cherry red spot myoclonus syndrome in each Cherry-red Spot Ddx Mnemonic | dispatches  cherry red spot myoclonus syndrome 235; Cherry Red Spot Myoclonus Syndrome


★リンクテーブル★
先読みさくらんぼ赤色斑ミオクローヌス症候群
リンク元ムコリピドーシスIII型」「mucolipidosis type II」「mucolipidosis type IV」「mucolipidosis type I
関連記事spot」「red」「cherry」「syndrome」「re

さくらんぼ赤色斑ミオクローヌス症候群」

  [★] ムコリピドーシスIII型


ムコリピドーシスIII型」

  [★]

mucolipidosis type III、mucolipidosis III, mucolipidosis type 3
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
ムコリピドーシス ムコリピド症 mucolipidosisシアリドーシス sialidosis


cherry red spot myoclonus syndrome
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
[show details]

mucolipidosis type II」

  [★]

ムコリピドーシスII型ムコ脂質症II型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type Imucolipidosis type IIImucolipidosis type IVpseudo-Hurler polydystrophysialidosis


mucolipidosis type IV」

  [★]

ムコリピドーシスIV型ムコ脂質症IV型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type Imucolipidosis type IImucolipidosis type IIIpseudo-Hurler polydystrophysialidosis


mucolipidosis type I」

  [★]

ムコリピドーシスI型ムコ脂質症I型

cherry red spot myoclonus syndromeI-cell diseasemucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type IImucolipidosis type IIImucolipidosis type IVpseudo-Hurler polydystrophysialidosis

spot」

  [★]

  • n.
dotlocallocoregionalmottlepointregionalstigmastigmata

WordNet   license wordnet

「mark with a spot or spots so as to allow easy recognition; "spot the areas that one should clearly identify"」

WordNet   license wordnet

「a small piece or quantity of something; "a spot of tea"; "a bit of paper"; "a bit of lint"; "I gave him a bit of my mind"」
bit

WordNet   license wordnet

「a small contrasting part of something; "a bald spot"; "a leopard''s spots"; "a patch of clouds"; "patches of thin ice"; "a fleck of red"」
speckle, dapple, patch, fleck, maculation

WordNet   license wordnet

「a business establishment for entertainment; "night spot"」

WordNet   license wordnet

「a playing card with a specified number of pips on it to indicate its value; "an eight-spot"」

WordNet   license wordnet

「a mark on a die or on a playing card (shape depending on the suit)」
pip

WordNet   license wordnet

「a section of an entertainment that is assigned to a specific performer or performance; "they changed his spot on the program"」

WordNet   license wordnet

「a short section or illustration (as between radio or tv programs or in a magazine) that is often used for advertising」

WordNet   license wordnet

「make a spot or mark onto; "The wine spotted the tablecloth"」
fleck, blob, blot

WordNet   license wordnet

「detect with the senses; "The fleeing convicts were picked out of the darkness by the watchful prison guards"; "I can''t make out the faces in this photograph"」
recognize, recognise, distinguish, discern, pick out, make out, tell apart

WordNet   license wordnet

「become spotted; "This dress spots quickly"」

PrepTutorEJDIC   license prepejdic

「『斑点』(はんてん),まだら,ぶち;(太陽の)黒点 / 『しみ』,よごれ;吹出物,にきび / (…に対する)汚名,汚点《+『on』+『名』》 / 『場所』,地点;部分,箇所 / (順序・組織における)位置;立場,おかれた状況 / 《a spot》《英話》(…の)少量,ちょっぴり(の…);(…の)1杯《+『of』+『名』》 / (ラジオ・テレビ番組の)構成区分 / …‘を'『しみで汚す』,‘に'汚れをつける;…‘に'斑点(はんてん)をつける,‘を'まだら(ぶち)にする;( …で)…‘に'しみ(斑点)をつける《+『名』+『with』+『名』》 / 〈人格・名声など〉‘を'汚す,傷つける / (特定の場所に)…‘を'置く,配置する / …‘を'見つける;(…だと)…‘を'見抜く《+『名』+『as』(『for』)+『名』》 / 〈インクなどが〉『しみになる』;〈布などが〉汚れる / 即座になされる,即時払いの(引き渡しの) / 現場での,現地の / (ラジオ・テレビで)番組の間に放送される / ちょうど,ぴったり(exactly)」

red」

  [★]

  • adj.
erythro

WordNet   license wordnet

「of a color at the end of the color spectrum (next to orange); resembling the color of blood or cherries or tomatoes or rubies」
reddish, ruddy, blood-red, carmine, cerise, cherry, cherry-red, crimson, ruby, ruby-red, scarlet

WordNet   license wordnet

「red color or pigment; the chromatic color resembling the hue of blood」
redness

PrepTutorEJDIC   license prepejdic

「〈U〉〈C〉『赤,』『赤色;』赤い絵の具(染料) / 〈U〉赤い服 / 〈C〉《しばしば『R-』》《話》《時に軽べつして》アカ,共産主義者;過激論(主義)者 / 〈U〉《通例the ~》(会計の)赤字,負債 / 『赤い』,赤色の / (顔・目などが)赤くなった;血に染った / 赤い服を着た;赤毛の / 《しばしば『R-』》《話》《軽べつして》共産主義の;過激な」


cherry」

  [★]

サクランボ

almondapricotpeachplumPrunusPrunus persica

WordNet   license wordnet

「any of numerous trees and shrubs producing a small fleshy round fruit with a single hard stone; many also produce a valuable hardwood」
cherry tree

WordNet   license wordnet

「wood of any of various cherry trees especially the black cherry」

WordNet   license wordnet

「a red fruit with a single hard stone」

PrepTutorEJDIC   license prepejdic

「〈C〉『サクランボ』 / 〈C〉『サクラの木』 / 〈U〉サクラ材 / 〈U〉サクラ色 / サクラ色の」


syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(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」


re」

  [★]

  • comb form

WordNet   license wordnet

「the syllable naming the second (supertonic) note of any major scale in solmization」
ray

PrepTutorEJDIC   license prepejdic

「レ(全音階の第2音)」




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