Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy
about
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseCompound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological diseaseThe SWISS-PROT protein sequence data bank: current status.Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency allelesCerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations"Pseudodeficiencies" of lysosomal hydrolases.Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in AsiaHigh residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophyThe arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.Arylsulfatase A hydrolyses sulfate from sulfatide to form cerebrosideGenetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.
P2860
Q26824085-B66F5AC3-AE4E-4B59-81B0-1637687B81DAQ30501589-B9C3E7AB-48F3-421A-8067-97D0B606B929Q33463176-3882F4EB-C94D-40F3-9C1E-97B862869267Q33889736-945D32F7-9A5A-4427-B554-3C5F1B3B06BBQ33903446-B02DFADC-1FFB-44DC-ACBF-46DEB754A6EFQ34373560-C53EC8E7-8333-4D0C-A37C-FA9421416BCEQ35889203-8BCB9F86-66AE-4739-AE44-363053BDECDBQ36263234-19D2CB90-40E7-4367-AA68-1E74A9894F93Q40539443-D2125282-35BB-40FC-9CCC-E1547EF2F7D1Q40565457-6CBC1387-6432-4A97-A751-BCDB923B86B7Q50294036-0E0B2D76-FDA2-4239-9EAF-11FAD6755E37Q53396036-785A3821-1423-454B-A4DF-643CC0ED1CB7
P2860
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy
description
1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին 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
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@ast
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@en
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@nl
type
label
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@ast
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@en
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@nl
prefLabel
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@ast
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@en
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@nl
P2093
P2860
P1476
Mutations in the arylsulfatase ...... g metachromatic leukodystrophy
@en
P2093
A L Fluharty
K Von Figura
T Tønnesen
V Gieselmann
P2860
P304
P407
P577
1991-08-01T00:00:00Z