Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene-Reference-Cited by-同舟云学术

Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene

Published:2006-01-25 Issue:2 Volume:59 Page:428-431
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Janson Christopher G.¹²,Kolodny Edwin H.³,Zeng Bai‐Jin³,Raghavan Srinivasa³,Pastores Gregory³,Torres Paola³,Assadi Mitra¹,McPhee Scott¹,Goldfarb Olga¹,Saslow Beth¹,Freese Andrew²,Wang D. J.⁴,Bilaniuk Larissa⁴,Shera David⁵,Leone Paola¹

Affiliation:

1. Departments of Neurology and Molecular Genetics, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, Camden, NJ

2. Department of Neurosurgery, University of Minnesota, Minneapolis, MN

3. Department of Neurology, New York University, New York, NY

4. Department of Neuroradiology, University of Pennsylvania, Philadelphia, PA

5. Department of Biostatistics, Children's Hospital of Pennsylvania, Philadelphia, PA

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.20787

Reference16 articles.

1. Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

2. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

3. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

4. Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease;Leone P;Curr Opin Molec Ther,2001

5. Lithium Citrate for Canavan Disease

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