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培養線維芽細胞をアリールスルファターゼ
から減少の結果
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とは何か 'arylsulfatase a cultured fibroblasts'?
に定義されています 培養線維芽細胞をアリールスルファターゼ
arylsulfatase A cultured fibroblasts なる 医療処置 このような診断のために使用: 異染性白質萎縮症.
related diagnosis for '培養線維芽細胞をアリールスルファターゼ'
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診断
異染性白質萎縮症
genetic disease affecting nerve sheaths or myelin
培養線維芽細胞をアリールスルファターゼ および 異染性白質萎縮症
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生化学的研究のための培養皮膚線維芽細胞
培養線維芽細胞をアリールスルファターゼ および 生化学的研究のための培養皮膚線維芽細胞
羊水
培養線維芽細胞をアリールスルファターゼ および 羊水
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包括的な目の試験を受けます
培養線維芽細胞をアリールスルファターゼ および 包括的な目の試験を受けます
発達テスト
培養線維芽細胞をアリールスルファターゼ および 発達テスト
脳波 - 脳波
培養線維芽細胞をアリールスルファターゼ および 脳波 - 脳波
胎児治療
培養線維芽細胞をアリールスルファターゼ および 胎児治療
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培養線維芽細胞をアリールスルファターゼ および 遺伝子治療
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培養線維芽細胞をアリールスルファターゼ および 造血細胞の移植幹
組織適合試験
培養線維芽細胞をアリールスルファターゼ および 組織適合試験
腰椎穿刺
培養線維芽細胞をアリールスルファターゼ および 腰椎穿刺
分子遺伝学的研究
培養線維芽細胞をアリールスルファターゼ および 分子遺伝学的研究
神経生検
培養線維芽細胞をアリールスルファターゼ および 神経生検
神経伝導研究のNCSの
培養線維芽細胞をアリールスルファターゼ および 神経伝導研究のNCSの
神経評価
培養線維芽細胞をアリールスルファターゼ および 神経評価
周辺腓腹神経生検
培養線維芽細胞をアリールスルファターゼ および 周辺腓腹神経生検
RI標識スルファチドの線維芽細胞読み込んでいます
培養線維芽細胞をアリールスルファターゼ および RI標識スルファチドの線維芽細胞読み込んでいます
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培養線維芽細胞をアリールスルファターゼ および 尿スルファチド
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related medication for '培養線維芽細胞をアリールスルファターゼ'/関連する診断
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医師は、次の種類に関連している '培養線維芽細胞をアリールスルファターゼ'.
医師の関連する型 'family practitioner, genetics specialist, internist, neurologist, neurosurgeon'
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ウェブ検索結果調査のための '培養線維芽細胞をアリールスルファターゼ'?
その結果
1 - 50
- arylsulfatase A cultured fibroblasts
Complementation of arylsulfatase A in somatic hybrids of metachromatic ...
... cell clones produced by fusing cultured fibroblasts from patients with these ... Multiple sulfatase deficiencies in cultured skin fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=350235
www.pubmedcentral.nih.gov
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summary
An 11-bp deletion in the arylsulfatase A gene of a...[Hum Genet. 1991 ...
PubMed is a service of the U.S. National Library of Medicine that includes over ... reacting material could be detected in cultured fibroblasts from the patient. ...
http://www.ncbi.nlm.nih.gov/pubmed/1676699
www.ncbi.nlm.nih.gov
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summary
METACHROMATIC LEUKODYSTROPHY: ARYLSULFATASE-A DEFICIENCY IN SKIN ...
Fibroblasts cultured from the skin of a patient with metachromatic ... The finding that readily cultured fibroblasts from easily obtained skin biopsy ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=223681
www.pubmedcentral.nih.gov
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summary
Effect of ascorbic acid on arylsulfatase activities and sulfated ...
Arylsulfatase A and B activities were found to be reduced in the presence of ... H. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=17619
www.pubmedcentral.nih.gov
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summary
Enhancement of Residual Arylsulfatase B Activity in Feline ...
... H. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts. ... M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370978
www.pubmedcentral.nih.gov
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summary
eMedicine - I-Cell Disease (Mucolipidosis Type II) : Article by Karl S Roth
... enzymologic studies showed that cultured fibroblasts from patients with I-cell ... activities of beta-hexosaminidase, iduronate sulfatase, and arylsulfatase A are ...
http://www.emedicine.com/ped/topic1150.htm
www.emedicine.com
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summary
Association of steroid sulfatase with one of the a...[J Biol Chem. 1986 ...
... in origin and demonstrated a novel inheritance pattern in human cultured cells. ... Biochemical characterization of arylsulfatase-C isozymes in human fibroblasts. ...
http://www.ncbi.nlm.nih.gov/pubmed/3464600
www.ncbi.nlm.nih.gov
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summary
eMedicine - Metachromatic Leukodystrophy : Article by Theodore Moore
Metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which ... in leukocytes or in cultured skin fibroblasts. ...
http://www.emedicine.com/ped/topic2893.htm
www.emedicine.com
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summary
Ubiquitin carboxy-terminal hydrolase L1 - Wikipedia, the free encyclopedia
... gene product 9.5 (IEF SSP 6104) is expressed in cultured human MRC-5 fibroblasts ... Arylsulfatase A - Iduronate-2-sulfatase - N-acetylglucosamine-6-sulfatase ...
http://en.wikipedia.org/wiki/Ubiquitin_carboxy-terminal_hydrolase_L1
en.wikipedia.org
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summary
Arylsulfatase A Deficiency -- GeneReviews -- NCBI Bookshelf
( 2) Cultured skin fibroblasts have often been used to confirm deficiency of ARSA ... of arylsulfatase A enzyme activity in leukocytes or cultured fibroblasts for ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mld
www.ncbi.nlm.nih.gov
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summary
Arylsulfatase A Deficiency
( 2) Cultured skin. fibroblasts have often been used to confirm deficiency of ARSA enzyme activity ... Analysis of arylsulfatase A enzyme activity in ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Metabolism of cerebroside sulfate and subcellular distribution of its ...
Metabolic studies with cultured fibroblasts. J Neurol Sci. ... A specific ultrastructural stain for arylsulfatase A activity in human cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=329572
www.pubmedcentral.nih.gov
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summary
Diagnosis of Metachromatic Leukodystrophy, Krabbe Disease, and Farber ...
... N. Very low arylsulfatase A and cerebroside sulfatase ... Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370230
www.pubmedcentral.nih.gov
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summary
eMedicine - Lysosomal Storage Disease : Article by Noah S Scheinfeld
A deficiency in arylsulfatase B (ie, N-acetylgalactosamine 4-sulfatase) occurs. ... If cultured fibroblasts are used, the characteristic pattern of lysosomal enzyme ...
http://www.emedicine.com/neuro/topic668.htm
www.emedicine.com
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summary
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and ...
... a nonselective method, somatic cell hybrids were obtained from cultured fibroblasts of ... in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=390047
www.pubmedcentral.nih.gov
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summary
Multiple sulfatase deficiency: catalytically inactive sulfatases are ...
... of arylsulfatase A and B in fibroblasts from multiple ... maturation of arylsulfatase B in normal and mutant cultured human fibroblasts. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=48701
www.pubmedcentral.nih.gov
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summary
Lysosomal Disease
... in living cultured fibroblasts: type B fibroblasts are capable of hydrolyzing a ... and the gene coding for human arylsulfatase A have been cloned, and several ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.2904
www.ncbi.nlm.nih.gov
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summary
eMedicine - Mucopolysaccharidosis Type VI : Article by Paul R Harmatz
... arylsulfatase B deficiency, polydystrophic dwarfism, type VI ... specific lysosomal enzyme level in cultured fibroblasts or isolated leukocytes. ...
http://www.emedicine.com/ped/topic1373.htm
www.emedicine.com
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summary
Juvenile and adult metachromatic leukodystrophy: partial restoration of ...
Arylsulfatase A polypeptides were examined in cultured fibroblasts from a ... METACHROMATIC LEUKODYSTROPHY: ARYLSULFATASE-A DEFICIENCY IN SKIN FIBROBLAST CULTURES. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534361
www.pubmedcentral.nih.gov
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summary
Krabbe Disease - GeneReviews
Disease overview, diagnosis, clinical description, testing, genetic counseling, and related resources. From the National Center for Biotechnology Information (NCBI) bookshelf.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe
www.ncbi.nlm.nih.gov
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summary
Antibody to mannose 6-phosphate specific receptor induces receptor ...
... of a lysosomal enzyme, alpha-L-iduronidase, to receptors on ... maturation of arylsulfatase B in normal and mutant cultured human fibroblasts. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=557509
www.pubmedcentral.nih.gov
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summary
eMedicine - Lipid Storage Disorders : Article by Margaret McGovern
... of specific enzymatic activity in isolated leukocytes or cultured fibroblasts. ... disease caused by deficiency of arylsulfatase A (ASA), which is required for ...
http://www.emedicine.com/ped/topic1310.htm
www.emedicine.com
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summary
Two site-directed mutations abrogate enzyme activity but have different ...
... maturation of arylsulfatase B in normal and mutant cultured human fibroblasts. J Biol Chem. ... Human arylsulfatase B: MOPAC cloning, nucleotide sequence ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1136670
www.pubmedcentral.nih.gov
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summary
Mucolipidosis II -- GeneReviews -- NCBI Bookshelf
Arylsulfatase A (EC 3.1.6.1) ... in addition to cathepsin A deficient in leukocytes and cultured fibroblasts. ... in cultured fibroblasts have established ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ml2
www.ncbi.nlm.nih.gov
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summary
Human beta-glucuronidase deficiency mucopolysaccharidosis ...
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. ... leukodystrophy (primary enzyme immunoassay of arylsulfatase-A) ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=333336
www.pubmedcentral.nih.gov
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summary
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha ...
... A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND ... H. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=336290
www.pubmedcentral.nih.gov
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summary
Genetic complementation studies of multiple sulfatase deficiency.
Multiple sulfatase deficiencies in cultured skin fibroblasts. ... of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=411892
www.pubmedcentral.nih.gov
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summary
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally ...
... a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts. ... factor-I autocrine/paracrine axis in cultured rat articular chondrocytes. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=507455
www.pubmedcentral.nih.gov
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summary
Phenotype of arylsulfatase A-deficient mice: Relationship to human ...
Cultured fibroblasts of (/), (+/and (+/+) mice were allowed to endocytose ... Abbreviations: ASA, arylsulfatase A; MLD, metachromatic leukodystrophy; tk, ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8962139
www.pubmedcentral.nih.gov
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summary
X-Linked Adrenoleukodystrophy -- GeneReviews -- NCBI Bookshelf
... of VLCFA in plasma and/or cultured skin fibroblasts is present in approximately ... leukodystrophy including arylsulfatase deficiency (metachromatic ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-ald
www.ncbi.nlm.nih.gov
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summary
eMedicine - Ataxia with Identified Genetic and Biochemical Defects ...
abetalipoproteinemia, Angelman syndrome, arginase, argininemia, argininosuccinate lyase, ... Specific enzyme assays on cultured skin fibroblasts ...
http://www.emedicine.com/neuro/topic556.htm
www.emedicine.com
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summary
X-Linked Adrenoleukodystrophy
cultured skin fibroblasts is present in approximately 85% of affected females; 20% of known ... arylsulfatase deficiency (metachromatic leukodystrophy), Krabbe ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
alpha-Glucosidase and N-acetylglucosamine-6-sulphatase are the major ...
... uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. ... Cloning and expression of human arylsulfatase A. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1218398
www.pubmedcentral.nih.gov
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summary
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in ...
... sulfatase) protein content in cultured fibroblasts from normal controls and ... of arylsulfatase A and B activities: a sensitive method for cultured human cells. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1682943
www.pubmedcentral.nih.gov
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summary
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique ...
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a ... maturation of arylsulfatase B in normal and mutant cultured human fibroblasts. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1918135
www.pubmedcentral.nih.gov
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summary
Regional assignment of the structural gene for human alpha-L-iduronidase.
Matalon R, Cifonelli JA, Dorfman A. L-iduronidase in cultured human fibroblasts and liver. ... Human lysosomal genes: arylsulfatase A and beta-galactosidase. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=344787
www.pubmedcentral.nih.gov
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summary
Mucopolysaccharidosis type I subtypes. Presence of immunologically ...
Purification and properties of feline and human arylsulfatase B isozymes. ... A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=442479
www.pubmedcentral.nih.gov
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summary
A canine model of human alpha-L-iduronidase deficiency.
... M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model ... of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534366
www.pubmedcentral.nih.gov
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summary
eMedicine - Mucopolysaccharidoses Types I-VII : Article by Janette ...
N-acetylgalactosamine-4-sulfatase (arylsulfatase B) N/A. MPS type VI ... A Hurler syndrome fibroblast cell line heterozygous for the IDUA gene that ...
http://www.emedicine.com/derm/topic710.htm
www.emedicine.com
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summary
Internalization of blocking antibodies against mannose-6-phosphate ...
... A, Von Figura K. Biosynthesis and transport of cathepsin D in cultured human fibroblasts. ... restoration of arylsulfatase A (cerebroside sulfatase) ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=554409
www.pubmedcentral.nih.gov
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summary
Diversity, topographic differentiation, and positional memory in human ...
( A) Unsupervised hierarchical clustering of cultured fibroblasts. ... Similarly, emopamil binding protein and arylsulfatase C, two enzymes involved in ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...
www.pubmedcentral.nih.gov
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summary
eMedicine - Diseases of Tetrapyrrole Metabolism: Refsum Disease and the ...
... granules and decreased arylsulfatase A activity can ... Studies with human cultured skin fibroblasts. N Engl J Med. Apr 3 1980;302(14):765-9. [Medline] ...
http://www.emedicine.com/neuro/TOPIC633.HTM
www.emedicine.com
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summary
eMedicine - Metabolic Neuropathy : Article by Fernando Dangond
A glycoprotein called laminin promotes neurite extension in cultured neurons. ... Arylsulfatase A and B (leukodystrophies) Hexosaminidases ...
http://www.emedicine.com/neuro/topic214.htm
www.emedicine.com
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summary
Genetics of type II glycogenosis: Assignment of the human gene for acid ...
... mouse cells and fibroblasts from a patient with Pompe disease that contained ... Electrophoresis of arylsulfatase from normal individuals and patients with ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?&artid=411610
www.pubmedcentral.nih.gov
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summary
Mannose 6-phosphate-specific receptor is a transmembrane protein with a ...
Biosynthesis and turnover of the phosphomannosyl receptor in human fibroblasts. ... restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1144622
www.pubmedcentral.nih.gov
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summary
Neuronal Ceroid-Lipofuscinoses -- GeneReviews -- NCBI Bookshelf
... 1. Neuromedin B is degraded by a similar pathway in cultured human fibroblasts. ... lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl
www.ncbi.nlm.nih.gov
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summary
X-linked ichthyosis and X-linked placental sulfatase deficiency: a ...
In addition, microsomal arylsulfatase C (MAS) could not be detected in the ... Steroid sulfatase activity of cultured skin fibroblasts from the boys was almost ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1903491
www.pubmedcentral.nih.gov
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summary
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
... 10-fold increase in serum lysosomal enzyme levels (Arylsulfatase A, ... A solubilized membrane fraction was prepared from cultured skin fibroblasts from ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=289169
www.pubmedcentral.nih.gov
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summary
Herpes simplex virus and human cytomegalovirus replication in WI-38 ...
... lysosomal enzymes acid phosphatase and arylsulfatase in cells infected by herpes ... Human cytomegalovirus infection of cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=354038
www.pubmedcentral.nih.gov
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summary
Lysosomal aspartylglucosaminidase is processed to the active subunit ...
Hasilik A, Neufeld EF. Biosynthesis of lysosomal enzymes in ... maturation of arylsulfatase B in normal and mutant cultured human fibroblasts. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=413205
www.pubmedcentral.nih.gov
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summary
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MEDgle 2009ビジネスアワードの医学研究でベストに選ばれています