Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
about
A 5' splice site mutation in fucosidosisDeveloping therapeutic approaches for metachromatic leukodystrophyNovel patient cell-based HTS assay for identification of small molecules for a lysosomal storage diseaseCompound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological diseaseMetachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophyThe arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
P2860
Q24514978-A005CA7C-B214-473F-9DB2-396BC30555A4Q28297086-B4FC8DAC-359B-45C6-B593-C9258B0A75F8Q28478533-EB805B1A-4A5D-44AC-A8CD-5490AADED0E4Q30501589-9A3DC49A-3D44-4827-9AE1-67E2EA45B49FQ34615254-BD40687A-32DC-4A90-9F4E-9849F1BE3AAFQ35657375-E674FEB8-FAB5-4F7D-8D09-108A8333BB12Q40539443-F534740A-F96D-43F2-8F24-0AB23EB0D992Q40565457-94E8352E-489D-47F3-98DE-2A2D105C06BAQ51762755-9E6170E2-F97E-4F90-AC62-3E408BC1E022
P2860
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին 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
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@ast
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@en
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@nl
type
label
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@ast
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@en
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@nl
prefLabel
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@ast
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@en
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@nl
P2093
P2860
P1476
Two new arylsulfatase A (ARSA) ...... c leukodystrophy (MLD) patient
@en
P2093
A L Fluharty
C B Fluharty
K von Figura
V Gieselmann
P2860
P304
P407
P577
1991-12-01T00:00:00Z