mucolipidosis type I

出典: meddic


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

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  • Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
  • van Meel E1, Qian Y, Kornfeld SA.
  • Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2014 Mar 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18.
  • The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate recognition
  • PMID 24550498
  • Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
  • Liu S1, Zhang W2, Shi H3, Meng Y3, Qiu Z4.
  • Gene.Gene.2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.
  • BACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hyd
  • PMID 24316125
  • Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.
  • Bonesso L, Piraud M, Caruba C, Van Obberghen E, Mengual R, Hinault C1.
  • Orphanet journal of rare diseases.Orphanet J Rare Dis.2014 Feb 6;9(1):19. doi: 10.1186/1750-1172-9-19.
  • BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typica
  • PMID 24502792
  • Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV?
  • Coblentz J1, St Croix C, Kiselyov K1.
  • The Biochemical journal.Biochem J.2014 Jan 15;457(2):361-8. doi: 10.1042/BJ20130647.
  • TRPML1 (transient receptor potential mucolipin 1) is a lysosomal ion channel permeable to cations, including Fe2+. Mutations in MCOLN1, the gene coding for TRPML1, cause the LSD (lysosomal storage disease) MLIV (mucolipidosis type IV). The role of TRPML1 in the cell is disputed and the mechanisms of
  • PMID 24192042


  • ムコリピドーシス3型患児の口腔内所見
  • 小金澤 大亮,安田 順一,橋本 岳英,片川 吉尚,可知 直剛,光吉 平,玄 景華
  • 障害者歯科 32(3), 518, 2011-09-30
  • NAID 10030299956
  • Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
  • Brain & development 31(9), 702-705, 2009-10-01
  • NAID 10026412825
  • Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
  • Three cases of mucolipidosis III with significant differences in clinical pictures. Reevaluation of the classification of mucolipidosis II and III.:Reevaluation of the Classification of Mucolipidosis II and III
  • 西本 潤史,塚本 浩子,乾 幸治,岡田 伸太郎,藪内 百治,玉井 浩,美濃 真,賀佐 伸省,館 睦子,山野 恒一
  • 脳と発達 21(1), 49-55, 1989
  • … Three cases of mucolipidosis III (ML-III) from two families are described. … Results of biochemical studies with plasma, lymphocytes and cultured skin fibroblasts of these 3 cases were compatible with those of ML-IL However, case 1 showed an intermediate clinical phenotype of mucolipidosis II (ML-II) and ML-Ill and cases 2 and 3 showed milder clinical picture than that of typical ML-III. …
  • NAID 130004068029


I-cell disease is an inherited lysosomal storage disorder. [1] It first was described in 1967 by Leroy and DeMars when they reported a patient with clinical and radiographic features similar to those of Hurler syndrome (mucopolysaccharidoses 1H [MPS 1H]) but with an earlier onset of symptoms ...
Posted in Genedic Diseases | Tags: and dystonia., EG, extrapyramidal disease, GM1 Gangliosidosis, Krabbe Disease, mucolipidosis type I, Niemann-Pick disease, parkinsonian features, Tay-Sachs disease | No Comments » ...
General Description Sialidosis is characterized by a deficiency of the digestive enzyme, alpha-neuraminidase. There are four types of Sialidosis, each type of Sialidosis is characterized by the age of onset and by the type of physical ...


ismrd mucolipidosis ii mucolipidosis Mucolipidosis; Enfermedad de Células I | JAMA Ophthalmology | Cherry Red Spot  Cell Disease (Mucolipidosis Type IIDevelopmental and genetic diseases - Atlas Mucolipidosis type III | Radiology Case

先読みcherry red spot myoclonus syndrome」「pseudo-Hurler polydystrophy
拡張検索mucolipidosis type II」「mucolipidosis type IV」「mucolipidosis type III

cherry red spot myoclonus syndrome」

  [★] さくらんぼ赤色斑ミオクローヌス症候群

pseudo-Hurler polydystrophy」

  [★] 偽性ハーラー・ポリジストロフィー



mucolipidosis type I、mucolipidosis I



mucolipidosis type I

mucolipidosis type II」



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」



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 III」

  [★] ムコリピドーシスIII型



  • n.
(windows)ファイル内容表示(linux -> cat])
ex. type | php a.php >
formmodepatterntype specimentyped

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「write by means of a keyboard with types; "type the acceptance letter, please"」

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「a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"」

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「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

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「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

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「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

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「printed characters; "small type is hard to read"」

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「identify as belonging to a certain type; "Such people can practically be typed"」

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「〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ」



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「the 9th letter of the Roman alphabet」

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  • n.
  • タイプで打つこと、タイピング。分類

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「writing done with a typewriter」





  • adj.
  • 型の