pseudo-Hurler disease

偽性ハーラー病

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• 1. ムコ多糖症の臨床的特徴および診断 clinical features and diagnosis of the mucopolysaccharidoses
• 2. von Willebrand病の臨床症状および診断 clinical presentation and diagnosis of von willebrand disease
• 3. ムコ多糖症の合併症およびマネージメント complications and management of the mucopolysaccharidoses
• 4. von Willebrand病の分類および病態生理 classification and pathophysiology of von willebrand disease
• 5. 小児における血小板減少症の原因 causes of thrombocytopenia in children

English Journal

• Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.

• Colletti GA, Miedel MT, Quinn J, Andharia N, Weisz OA, Kiselyov K.SourceDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
• The Journal of biological chemistry.J Biol Chem.2012 Mar 9;287(11):8082-91. Epub 2012 Jan 18.
• Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the gene MCOLN1, which codes for the transient receptor potential family ion channel TRPML1. MLIV has an early onset and is characterized by developmental delays, motor and cognitive deficiencies, gastric abnormalitie
• PMID 22262857

Japanese Journal

• I-cell disease and pseudo-Hurler polydystophy : heterozygote detection and characteristics of the altered N-acetly-glucosamine-phosphotransferase in genetic variants

• MUELLER O. T.
• Clin. Chem. Acta 150, 175-183, 1985
• NAID 30003257792

Related Links

• Pseudo-Hurler polydystrophy - Wikipedia, the free encyclopedia

Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II). This disorder is called Pseudo-Hurler because it resembles a mild form of Hurler syndrome, one ...

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★リンクテーブル★

リンク元	「偽性ハーラー病」
関連記事	「disease」「pseudo」

「偽性ハーラー病」

　　[★]

英

pseudo-Hurler disease

[show details]

偽ハーラー病 : 約 6 件
偽性ハーラー病 : 11 件

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「pseudo」

　　[★]

• n.

• 仮性、偽性、ニセ

関

counterfeit、false、mock、sham、spurious