MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

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P2860

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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label

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

@nl

P1476

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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Cindy Portner

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Cynthia J Tifft

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David Adams

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Debra S Regier

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Edythe Wiggs

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Eva H Baker

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Gilbert Vezina

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Gretchen Golas

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Hyuk Joon Kwon

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Jean Johnston

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P2860

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients

Natural history of infantile G(M2) gangliosidosis.

Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

Regional apparent metabolite concentrations in young adult brain measured by (1)H MR spectroscopy at 3 Tesla.

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

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634-644

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scholarly article

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10.1002/AJMG.A.37468

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English

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170

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2015-12-08T00:00:00Z

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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P2860

P2860

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

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