about
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipPhenotype 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 geneMetachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutationsThe mousetrap: what we can learn when the mouse model does not mimic the human disease.Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings.Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.Cerebroside sulfate activator protein (Saposin B): chromatographic and electrospray mass spectrometric properties.Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.Wnts, signaling and sulfates.Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians
P2860
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P2860
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Molecular genetics of metachromatic leukodystrophy
@ast
Molecular genetics of metachromatic leukodystrophy
@en
Molecular genetics of metachromatic leukodystrophy
@nl
type
label
Molecular genetics of metachromatic leukodystrophy
@ast
Molecular genetics of metachromatic leukodystrophy
@en
Molecular genetics of metachromatic leukodystrophy
@nl
prefLabel
Molecular genetics of metachromatic leukodystrophy
@ast
Molecular genetics of metachromatic leukodystrophy
@en
Molecular genetics of metachromatic leukodystrophy
@nl
P2093
P356
P1433
P1476
Molecular genetics of metachromatic leukodystrophy
@en
P2093
Gieselmann V
Zlotogora J
P304
P356
10.1002/HUMU.1380040402
P407
P577
1994-01-01T00:00:00Z