Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/31 00:28:33」(JST)
wiki en
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
- 1. シェーグレン・ラルソン症候群 sjogren larsson syndrome
- 2. 異染性白質ジストロフィー metachromatic leukodystrophy
- 3. Recessive X-linked ichthyosis
- 4. 過期妊娠 postterm pregnancy
- 5. 遺伝性の魚鱗癬の概要 overview of the inherited ichthyoses
English Journal
- Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A.
- Virgens MY1, Pol-Fachin L, Verli H, Saraiva-Pereira ML.
- Journal of biomolecular structure & dynamics.J Biomol Struct Dyn.2014 Apr;32(4):567-79. doi: 10.1080/07391102.2013.780982. Epub 2013 Apr 13.
- Arylsulfatase A (ARSA) is a lysosomal sulfatase that catalyzes the hydrolysis of cerebroside sulfate. Its deficiency results in Metachromatic Leukodystrophy, whereas a minor condition called ARSA pseudodeficiency occurs in healthy individuals, which has been associated with the substitution of the g
- PMID 23581857
- Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
- Lorioli L1, Cesani M2, Regis S3, Morena F4, Grossi S3, Fumagalli F5, Acquati S2, Redaelli D2, Pini A6, Sessa M5, Martino S4, Filocamo M3, Biffi A7.
- Gene.Gene.2014 Mar 10;537(2):348-51. doi: 10.1016/j.gene.2013.11.062. Epub 2013 Dec 12.
- Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic activity and/or characterization of the gene mutations. Here we describe a family case in which the determination of enzyme activity alone did
- PMID 24334127
- Comparison of five peptide vectors for improved brain delivery of the lysosomal enzyme arylsulfatase A.
- Böckenhoff A1, Cramer S, Wölte P, Knieling S, Wohlenberg C, Gieselmann V, Galla HJ, Matzner U.
- The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2014 Feb 26;34(9):3122-9. doi: 10.1523/JNEUROSCI.4785-13.2014.
- Enzyme replacement therapy (ERT) is a treatment option for lysosomal storage disorders (LSDs) caused by deficiencies of soluble lysosomal enzymes. ERT depends on receptor-mediated transport of intravenously injected recombinant enzyme to lysosomes of patient cells. The blood-brain barrier (BBB) prev
- PMID 24573272
Related Links
- Shire is developing recombinant human cerebroside sulfatase, designated HGT 1110, as an enzyme replacement therapy (ERT) for the treatment of metachromatic ... Cerebroside sulfatase Alternative Names: Arylsulfatase A ...
- ...of these mutations occur in a gene known as ARSA (arylsulfatase A) and result in outright or partial loss of activity of the gene product, an enzyme called arylsulfatase A (ASA), or cerebroside sulfatase. Arylsulfatase A deficiency ...
Related Pictures
★リンクテーブル★
| 関連記事 | 「sulfatase」 |