Molecular basis of different forms of metachromatic leukodystrophy
about
A 5' splice site mutation in fucosidosisFrequency of arylsulphatase A pseudodeficiency associated mutations in a healthy populationMucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneTwo new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patientMucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyMutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophyDefective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophyDeveloping therapeutic approaches for metachromatic leukodystrophyCompound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological diseasePhenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyMetachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A geneFour novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutationsGenetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.Metachromatic leukodystrophy: recent research developments.Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophyPosition effect of human telomeric repeats on replication timing.Brain MRI and biological diagnosis in five Tunisians MLD patients."Pseudodeficiencies" of lysosomal hydrolases.Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vectorVEGF and VEGF type C play an important role in angiogenesis and lymphangiogenesis in human malignant mesothelioma tumours.Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAsUmbilical cord blood transplantation for juvenile metachromatic leukodystrophy.Impairment of tritan colour vision after initiation of treatment with zidovudine in patients with HIV disease or AIDS.Recent advances in gene therapy for lysosomal storage disorders.Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophyThe arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.Targeted gene transfer into ependymal cells through intraventricular injection of AAV1 vector and long-term enzyme replacement via the CSF.Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic areaThe functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy.A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.The natural course of gross motor deterioration in metachromatic leukodystrophy.
P2860
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P2860
Molecular basis of different forms of metachromatic leukodystrophy
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Molecular basis of different forms of metachromatic leukodystrophy
@ast
Molecular basis of different forms of metachromatic leukodystrophy
@en
Molecular basis of different forms of metachromatic leukodystrophy
@nl
type
label
Molecular basis of different forms of metachromatic leukodystrophy
@ast
Molecular basis of different forms of metachromatic leukodystrophy
@en
Molecular basis of different forms of metachromatic leukodystrophy
@nl
prefLabel
Molecular basis of different forms of metachromatic leukodystrophy
@ast
Molecular basis of different forms of metachromatic leukodystrophy
@en
Molecular basis of different forms of metachromatic leukodystrophy
@nl
P2093
P1476
Molecular basis of different forms of metachromatic leukodystrophy
@en
P2093
A L Fluharty
C B Fluharty
K von Figura
V Gieselmann
P356
10.1056/NEJM199101033240104
P407
P577
1991-01-03T00:00:00Z