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Open access

Case report

First published 2023

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature

Rana Irilouzadian, Ali Goudarzi, Hamed Hesami [...]

Sage Open Medical Case Reports

Retricted access

Other

First published 2003-09

Molecular Basis of Canavan's Disease

Sankar Surendran, Kimberlee M. Matalon, Stephen K. Tyring [...]

Journal of Child Neurology

Retricted access

Research article

First published 1997-6

Canavan Disease: Diagnosis and Molecular Analysis

Reuben Matalon

Genetic Testing and Molecular Biomarkers

Retricted access

Other

First published 2003-09

Metabolic Changes in the Knockout Mouse for Canavan's Disease

Sankar Surendran, Kimberlee M. Matalon, Sylvia Szucs [...]

Journal of Child Neurology

Retricted access

Other

First published 1996-09

Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease

Meral Topçu, Guliz Erdem, Islil Saatçi [...]

Journal of Child Neurology

Open access

Research article

First published 2025-01

Urine N -Acetylaspartate Distinguishes Phenotypes in Canavan Disease

Amanda Nagy, Florian Eichler, Annette Bley [...]

Human Gene Therapy

Retricted access

Research article

First published 2002-07

Gene Therapy of Canavan Disease: AAV-2 Vector for Neurosurgical Delivery of Aspartoacylase Gene ( ASPA ) to the Human Brain

Christopher Janson, Scott McPhee, Larissa Bilaniuk [...]

Human Gene Therapy

Open access

Research article

First published 2025-09

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis

Melina Weiß, Mareike Selig, Johannes Friedrich [...]

Human Gene Therapy

Free access

Research article

First published 2012-9

Aspartoacylase Supports Oxidative Energy Metabolism during Myelination

Jeremy S Francis, Louise Strande, Vladamir Markov [...]

Journal of Cerebral Blood Flow & Metabolism

Free access

Research article

First published 2021-7

Feline Spongy Encephalopathy With a Mutation in the ASPA Gene

Yuta Takaichi, James K. Chambers, Moeko Shiroma-Kohyama [...]

Veterinary Pathology

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