metachromatic leukodystrophy

نتایج جستجو برای: metachromatic leukodystrophy

تعداد نتایج: 3076 فیلتر نتایج به سال:

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

Journal: :JAMA Neurology 2013

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Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)

Journal: :Human Mutation 2003

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Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

Journal: :Orphanet Journal of Rare Diseases 2015

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Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

Journal: :Proceedings of the National Academy of Sciences 1990

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Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

Journal: :Human Molecular Genetics 2005

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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Journal: :neurogenetics 2020

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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

Journal: :BMC Research Notes 2019

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Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations

Journal: :Intractable & Rare Diseases Research 2016

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Genotype Assignments in a Family with the Pseudo Arylsulfatase A Deficiency Trait without Metachromatic Leukodystrophy

Journal: :Pediatric Research 1984

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Vitamin K Antagonist Warfarin for Palliative Treatment of Metachromatic Leukodystrophy, A Compassionate Study of Four Subjects

Journal: :Journal of Central Nervous System Disease 2012

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