関: mannosidase deficiency disease

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/06 21:07:23」(JST)

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3. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis

English Journal

Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.

Riise Stensland HM, Klenow HB, Nguyen LV, Hansen GM, Malm D, Nilssen Ø.
Human mutation.Hum Mutat.2016 Aug;37(8):827. doi: 10.1002/humu.23002. Epub 2016 May 12.
PMID 27396955

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Ellsworth KA1, Pollard LM1, Cathey S1, Wood T2.
JIMD reports.JIMD Rep.2016 Jul 28. [Epub ahead of print]
Keratan sulfate (KS) is commonly elevated in urine samples from patients with mucopolysaccharidosis type IVA (MPS IVA) and is considered pathognomonic for the condition. Recently, a new method has been described by Martell et al. to detect and measure urinary KS utilizing LC-MS/MS. As a part of the
PMID 27469132

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J1, Thomas DC2, Kasper DC3, Sharma S2, Puri RD2, Bijarnia-Mahay S2, Mistry PK4, Verma IC2.
JIMD reports.JIMD Rep.2016 Mar 24. [Epub ahead of print]
High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden of lysosomal storage disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis
PMID 27008195

Japanese Journal

ESI-MS/MSによるα-マンノシドーシス患者尿中高マンノース型糖鎖ABEE-誘導体の構造解析

杉山産業化学研究所年報 2006年, 52-81, 2006
NAID 40015452155

Survival and engraftment of mouse embryonic stem cell-derived implants in the guinea pig brain

Neuroscience research : the official journal of the Japan Neuroscience Society 53(2), 161-168, 2005-10-01
NAID 10017130245

β-Mannosidosis with Angiokeratoma Corporis Diffusum

Journal of dermatology 31(11), 931-935, 2004-11-01
NAID 10016259060

Related Links

Mannosidosis | Define Mannosidosis at Dictionary.com

Medical Dictionary mannosidosis man·no·si·do·sis (mān'ə-sĭ-dō'sĭs) n. An inherited disorder caused by the deficiency of an enzyme necessary for the metabolism of mannose and characterized by mental retardation, kyphosis, and an ...

mannosidosis - definition of mannosidosis by Medical dictionary

mannosidosis /man·no·si·do·sis/ (man″ōs-ĭ-do´sis) a lysosomal storage disease due to a defect in α-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates; it is characterized by coarse facies, upper ...

★リンクテーブル★

リンク元	「マンノシドーシス」「マンノース症」「mannosidase deficiency disease」
拡張検索	「alpha-mannosidosis」「beta-mannosidosis」「β-mannosidosis」