mucolipidosis type II

出典: meddic

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

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英文文献

  • Phosphoinositide isoforms determine compartment-specific ion channel activity.
  • Zhang X, Li X, Xu H.SourceDepartment of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA.
  • Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2012 Jul 10;109(28):11384-9. Epub 2012 Jun 25.
  • Phosphoinositides serve as address labels for recruiting peripheral cytoplasmic proteins to specific subcellular compartments, and as endogenous factors for modulating the activity of integral membrane proteins. Phosphatidylinositol 4,5-bisphosphate (PI(4,5)P(2)) is a plasma-membrane (PM)-specific p
  • PMID 22733759
  • Unusual pulmonary findings in mucolipidosis II.
  • Ishak M, Zambrano EV, Bazzy-Asaad A, Esquibies AE.SourceDepartment of Pediatrics, Section of Respiratory Medicine, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
  • Pediatric pulmonology.Pediatr Pulmonol.2012 Jul;47(7):719-21. doi: 10.1002/ppul.21599. Epub 2011 Dec 7.
  • We report undescribed pulmonary findings in a child with mucolipidosis II (ML-II). Children with ML-II bear significant pulmonary morbidity that may include extensive pulmonary fibrosis, persistent hemosiderosis as well as pulmonary airway excrescences as they reach preschool age.Copyright © 2011 W
  • PMID 22162509
  • Rab11 is a useful tool for the diagnosis of microvillous inclusion disease.
  • Talmon G, Holzapfel M, DiMaio DJ, Muirhead D.SourceDepartment of Pathology and Microbiology, University of Nebraska Medical Center, 983135 Nebraska Medical Center, Omaha, NE 68198-3135, USA. gtalmon@unmc.edu
  • International journal of surgical pathology.Int J Surg Pathol.2012 Jun;20(3):252-6. Epub 2011 Dec 14.
  • Microvillous inclusion disease (MVID) is a congenital condition presenting with intractable diarrhea. Biopsies demonstrate abnormal apical PAS and CD10 staining in surface enterocytes correlating with the presence of characteristic cytoplasmic inclusions. MVID has been linked to mutations in myosin
  • PMID 22169970

和文文献

  • Cardiac Involvement in Mucolipidosis : Importance of Non-Invasive Studies for Detection of Cardiac Abnormalities
  • SATOH Yuichi,SAKAMOTO Kazumasa,FUJIBAYASHI Yozo,UCHIYAMA Takahisa,KAJIWARA Nagao,HATANO Michinobu
  • Japanese Heart Journal 24(1), 149-159, 1983
  • … Although mucolipidosis, a fatal metabolic storage disorder, is associated with cardiovascular abnormalities, detailed, non-invasive cardiac examinations have not been well documented. … We studied 4 children with type II and type III mucolipidosis, 3 of whom had unequivocal evidence of aortic regurgitation characterized by phonocardiography and M-mode echocardiography. …
  • NAID 130000764101
  • 遺伝性蓄積性疾患の肝組織における糖蛋白に関する研究
  • 東海林 黎吉
  • 1979-02-01
  • … The pathological livers studied were obtained from a case of GM1-gangliosidosis type II, two cases of I-cell disease, a case of a new type of mucolipidosis with β-galactosidase deficiency, a case of Hunter syndrome and a case of Morquio ndrome. … GM1-gangliosidosis type II: the main substance of accumulation in the liver was glycoproteins with glycosaminoglycans also slightly accumulated. …
  • NAID 120002081567
  • Mucopolysaccharidoses, Mucolipidoses, Sphingolipidoses の生検による直腸粘膜の電子顕微鏡的研究
  • 堀野 清孝
  • 1975-02-29
  • … 6) In Gsu-gangliosidosis type 2, the intracellular accumulative deposits showed characteristic struc-tures. … 7) In a new type of mucolipidosis,described by Horino et al., the characteristic intracellularaccumulative deposits different from those in other mucolipidoses were seen in the histiocytes and Schwann cells. …
  • NAID 120002081751

関連リンク

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 ...
MUCOLIPIDOSIS TYPE II Study of. Syndrome mucolipidosis type ii or i-cell disease mucolipidosis type. Jun may a. just food anuj sharma designer Introduced in, live births. Silva santos l, martins. Jenny ault, and selective purification ...
Recombine provides genetic testing for couples. We care about the health of your child. ... Mucolipidosis is a progressively debilitating disorder that affects many parts of the body. In this disease, the GNPTAB gene responsible for ...

関連画像

Target System: Multi-systemwith Mucolipidosis II, pathway in Mucolipidosis, type IV diseaseMucolipidosis Type IiPlacental mucolipidosisMucolipidosis IIplacenta_mucolipidosis_2.jpgCell Disease (Mucolipidosis Type II)


★リンクテーブル★
先読みcherry red spot myoclonus syndrome」「pseudo-Hurler polydystrophy
リンク元ムコリピドーシスII型」「ムコ脂質症II型」「mucolipidosis type IV」「mucolipidosis type I
拡張検索mucolipidosis type III
関連記事type」「I」「II」「typing」「typed

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

ムコリピドーシスII型」

  [★]

mucolipidosis type II、mucolipidosis II
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、さくらんぼ赤色斑ミオクローヌス症候群ムコリピド症


ムコ脂質症II型」

  [★]

mucolipidosis type II
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、さくらんぼ赤色斑ミオクローヌス症候群ムコリピド症


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


mucolipidosis type III」

  [★] ムコリピドーシスIII型


type」

  [★]

  • n.
(windows)ファイル内容表示(linux -> cat])
ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
formmodepatterntype specimentyped

WordNet   license wordnet

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

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

WordNet   license wordnet

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

WordNet   license wordnet

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

WordNet   license wordnet

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

PrepTutorEJDIC   license prepejdic

「〈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」

WordNet   license wordnet

「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"」

WordNet   license wordnet

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


I」

  [★]

WordNet   license wordnet

「the 9th letter of the Roman alphabet」
i

PrepTutorEJDIC   license prepejdic

「『私は』私が」

PrepTutorEJDIC   license prepejdic

「iodineの化学記号」


II」

  [★]


typing」

  [★]

  • n.
  • タイプで打つこと、タイピング。分類


WordNet   license wordnet

「writing done with a typewriter」
typewriting


typed」

  [★]

  • adj.
  • 型の
formmodepatterntype




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