(PDF) GM2-Gangliosidosis, AB Variant: Clinical,

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

JIMD Reports - Germany

doi 10.1007/8904_2015_469

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Date

January 1, 2015

Authors

Deborah Renaud

Michael Brodsky

Publisher

Springer Berlin Heidelberg

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GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

JIMD Reports - Germany

doi 10.1007/8904_2015_469

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB

Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

Clinical, Enzymatic, and Molecular Characterisation of a Portuguese Family With a Chronic Form of GM2-gangliosidosis B1 Variant.

Partial Deficiency of Beta-Hexosaminidase Activity in Canine GM2-gangliosidosis.

711. Intravenous Neonatal Gene Therapy Corrects GM2 Gangliosidosis in Sandhoff Mice for Long-Term, by Using AAV Viral Vector Expressing a New Hexosaminidase Variant

Different Attenuated Phenotypes of GM2 Gangliosidosis Variant B in Japanese Patients With HEXA Mutations at Codon 499, and Five Novel Mutations Responsible for Infantile Acute Form

Retrospective Diagnosis of Feline GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in Japan: Possible Spread of the Mutant Allele in the Japanese Domestic Cat Population

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