ムコリピドーシスIII型
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- 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"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- the 9th letter of the Roman alphabet (同)i
- writing done with a typewriter (同)typewriting
PrepTutorEJDIC
- 〈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
- 『私は』私が
- iodineの化学記号
UpToDate Contents
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English Journal
- GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
- Ho CC1, Tsung LL2, Liu KT2, Poon WT3.
- BMC medical genetics.BMC Med Genet.2018 Sep 12;19(1):162. doi: 10.1186/s12881-018-0679-5.
- PMID 30208878
- Mucolipidosis type III, a series of adult patients.
- Oussoren E1, van Eerd D2, Murphy E3, Lachmann R3, van der Meijden JC4, Hoefsloot LH5, Verdijk R6, Ruijter GJG5, Maas M7, Hollak CEM8, Langendonk JG2, van der Ploeg AT4, Langeveld M8.
- Journal of inherited metabolic disease.J Inherit Metab Dis.2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27.
- PMID 29704188
- Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
- Di Lorenzo G1, Velho RV1, Winter D2, Thelen M2, Ahmadi S2, Schweizer M3, De Pace R1, Cornils K4, Yorgan TA5, Grüb S1, Hermans-Borgmeyer I3, Schinke T5, Müller-Loennies S6, Braulke T7, Pohl S7.
- Molecular & cellular proteomics : MCP.Mol Cell Proteomics.2018 Aug;17(8):1612-1626. doi: 10.1074/mcp.RA118.000720. Epub 2018 May 17.
- PMID 29773673
Japanese Journal
- 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
- Cardiac involvement in mucolipidosis. Importance of Non-invasive studies for detection of cardiac abnormalities.:Importance of Non-Invasive Studies for Detection of Cardiac Abnormalities
- Satoh Yuichi [他],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
- Abnormal Urinary Excretion of Sialoglycoconjugates in Patients with Mucolipidosis
- KOSEKI MASAI,NAGAI YASUSHI,TSURUMI KOICHI
- The Tohoku Journal of Experimental Medicine 129(2), 123-133, 1979
- … Low molecular sialoglycoconjugates were isolated by the charcoal adsorption method from the urines of patients with mucolipidosis (one patient with mucolipidosis type I variant and three patients with mucolipidosis type II). …
- NAID 130003492612
★リンクテーブル★
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- 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
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ムコリピドーシスII型、ムコ脂質症II型
- 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
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ムコリピドーシスIV型、ムコ脂質症IV型
- 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
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ムコリピドーシスI型、ムコ脂質症I型
- 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
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- (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
- 関
- form、mode、pattern、type specimen、typed
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- 関
- form、mode、pattern、type
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