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Emerging novel concept of chaperone therapies for protein misfolding diseasesThe birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparisonPopulation carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAEStem cells in genetic myelin disorders.Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutationsThe relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.Fabry disease
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Sphingolipidoses in Turkey.
@en
Sphingolipidoses in Turkey.
@nl
type
label
Sphingolipidoses in Turkey.
@en
Sphingolipidoses in Turkey.
@nl
prefLabel
Sphingolipidoses in Turkey.
@en
Sphingolipidoses in Turkey.
@nl
P1476
Sphingolipidoses in Turkey.
@en
P2093
Hatice Asuman Ozkara
Meral Topçu
P304
P356
10.1016/J.BRAINDEV.2003.09.006
P577
2004-09-01T00:00:00Z