Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

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Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

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label

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

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prefLabel

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

@en

P1476

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation

@en

P2093

Ali Amar

http://www.w3.org/2001/XMLSchema#string

Muhammad Aiman Shahzad

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P2860

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Metachromatic leukodystrophy: an overview of current and prospective treatments.

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.

P2888

s12031-017-0959-0

P304

84-90

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P31

scholarly article

P356

10.1007/S12031-017-0959-0

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Saba Khaliq

Saqib Mahmood

P577

2017-08-10T00:00:00Z

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P6179

1091146747

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P698

28799099

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P921

Pakistan