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Article

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

10 Jan 2019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30632081
DOI: 10.1007/s12031-019-1259-7

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Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP GenePMID 30632081Read ↗

[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].Semantic proximity Read ↗

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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.Semantic proximity Read ↗

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