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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/01/23 11:02:35」(JST)
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- 1. 異染性白質ジストロフィー metachromatic leukodystrophy
- 2. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
- 3. シェーグレン・ラルソン症候群 sjogren larsson syndrome
- 4. アレキサンダー病 alexander disease
- 5. エキノカンジンの薬理学 pharmacology of echinocandins
English Journal
- Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
- Luzi P, Rafi MA, Rao HZ, Wenger DA.SourceLysosomal Diseases Testing Laboratory, Department of Neurology, Thomas Jefferson University, 1020 Locust Street, Room 346, Philadelphia, PA 19107, USA. Electronic address: paola.luzi@jefferson.edu.
- Gene.Gene.2013 Nov 10;530(2):323-8. doi: 10.1016/j.gene.2013.08.065. Epub 2013 Aug 31.
- Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused mainly by mutations in the arylsulfatase A (ARSA) gene. In this manuscript we report sixteen novel mutations identified in the ARSA gene of fifteen unrelated patients affected with MLD. Of these 16 mutations nine were missense
- PMID 24001781
- The Genome of the Alga-Associated Marine Flavobacterium Formosa agariphila KMM 3901T Reveals a Broad Potential for Degradation of Algal Polysaccharides.
- Mann AJ, Hahnke RL, Huang S, Werner J, Xing P, Barbeyron T, Huettel B, Stüber K, Reinhardt R, Harder J, Glöckner FO, Amann RI, Teeling H.SourceMax Planck Institute for Marine Microbiology, Bremen, Germany.
- Applied and environmental microbiology.Appl Environ Microbiol.2013 Nov;79(21):6813-22. doi: 10.1128/AEM.01937-13. Epub 2013 Aug 30.
- In recent years, representatives of the Bacteroidetes have been increasingly recognized as specialists for the degradation of macromolecules. Formosa constitutes a Bacteroidetes genus within the class Flavobacteria, and the members of this genus have been found in marine habitats with high levels of
- PMID 23995932
- Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.
- Kuchař L, Asfaw B, Poupětová H, Honzíková J, Tureček F, Ledvinová J.SourceInstitute of Inherited Metabolic Diseases, First Faculty of Medicine and General Teaching Hospital, Charles University, 128 08 Prague, Czech Republic.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2013 Oct 21;425:153-9. doi: 10.1016/j.cca.2013.06.027. Epub 2013 Jul 6.
- BACKGROUND: Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine.METHODS:
- PMID 23838369
Japanese Journal
- Comparison of Candidate Pairs of Hydrolytic Enzymes for Spectrophotometric-dual-enzyme-simultaneous-assay
- LIU Hongbo,YUAN Mei,YANG Xiaolan [他],HU Xiaolei,LIAO Juan,DANG Jizheng,XIE Yanling,PU Jun,LI Yuanli,ZHAN Chang-Guo,LIAO Fei
- Analytical Sciences 31(5), 421-427, 2015
- … Pseudomonas aeruginosa arylsulfatase (PAAS) and acetylcholinesterase (AChE) on their substrates derived from 4-nitrophenol/analogue served as candidate label B, and were compared for SDESA with an engineered alkaline phosphatase of Eschrichia coli (ECAP). …
- NAID 130005067338
- Establishment of a Method for Analyzing the Zilpaterol Residue in Beef Using Tandem Mass Spectrometry
- Kim Jae-Young,Chae Young-Sik,Moon Jin-Ah,Baek Seung-Hwa
- Food Science and Technology Research 20(6), 1165-1171, 2014
- … Before sample extraction, a beef sample was hydrolyzed by beta-glucuronidase/arylsulfatase and 0.2 M ammonium acetate buffer solution. …
- NAID 130004848131
- Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?
- Lohmann K,Schmidt A,Schillert A,Winkler S,Albanese A,Baas F,Bentivoglio AR,Borngraber F,Bruggemann N,Defazio G,Del Sorbo F,Deuschl G,Edwards MJ,Gasser T,Gomez-Garre P,Graf J,Groen JL,Grunewald A,Hagenah J,Hemmelmann C,Jabusch HC,Kaji R,Kasten M,Kawakami H,Kostic VS,Liguori M,Mir P,Munchau A,Ricchiuti F,Schreiber S,Siegesmund K,Svetel M,Tijssen MAJ,Valente EM,Westenberger A,Zeuner KE,Zittel S,Altenmuller E,Ziegler A,Klein C
- MOVEMENT DISORDERS 29(7), 921-927, 2014
- NAID 120005597264
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- arylsulfatase a group of enzymes active in the hydrolysis of sulfates and the metabolism of mucopolysaccharides; found in liver, pancreas, kidneys and immature monocytes. Several species of molluscs and Aerobacter spp. serve as ...
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