Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
about
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinHuman liver N-acetylgalactosamine 6-sulphatase. Purification and characterizationMolecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase geneMucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencySanfilippo syndrome: causes, consequences, and treatmentsRegulation of lysosomal ion homeostasis by channels and transportersA cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatasesHuman alpha-L-iduronidase: cDNA isolation and expressionComparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked geneBioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase.Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinCarrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.Escherichia coli K1 aslA contributes to invasion of brain microvascular endothelial cells in vitro and in vivoGermline and somatic mosaicism in a female carrier of Hunter diseaseReassessment of biochemically determined Hunter syndrome carrier status by DNA testingInsights into Hunter syndrome from the structure of iduronate-2-sulfataseWhole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesA comprehensive compositional analysis of heparin/heparan sulfate-derived disaccharides from human serum.Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IIExpression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein.Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girlExpression of genes from the human active and inactive X chromosomes.Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsMucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.Matching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfataseMethod development and analysis of free HS and HS in proteoglycans from pre- and postmenopausal women: evidence for biosynthetic pathway changes in sulfotransferase and sulfatase enzymes.Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.Enzymes approved for human therapy: indications, mechanisms and adverse effects.Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
P2860
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P2860
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
name
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
@ast
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
@en
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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type
label
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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prefLabel
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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P2093
P2860
P3181
P356
P1476
Hunter syndrome: isolation of ...... ne and analysis of patient DNA
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P2093
C P Morris
J Bielicki
J J Hopwood
P J Wilson
P R Clements
T Occhiodoro
P2860
P304
P3181
P356
10.1073/PNAS.87.21.8531
P407
P577
1990-11-01T00:00:00Z