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Original article
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

Authors

  • Simon Edvardson The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel PubMed articlesGoogle scholar articles
  • Jae Kyo Yi Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA Department of Medicine, Stony Brook University, Stony Brook, New York, USA Stony Brook Cancer Center, Stony Brook, New York, USA PubMed articlesGoogle scholar articles
  • Chaim Jalas Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA PubMed articlesGoogle scholar articles
  • Ruijuan Xu Department of Medicine, Stony Brook University, Stony Brook, New York, USA Stony Brook Cancer Center, Stony Brook, New York, USA PubMed articlesGoogle scholar articles
  • Bryn D Webb Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA PubMed articlesGoogle scholar articles
  • Justin Snider Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA Department of Medicine, Stony Brook University, Stony Brook, New York, USA PubMed articlesGoogle scholar articles
  • Anastasia Fedick Departments of Molecular Genetics, Microbiology and Immunology, UMDNJ-Robert Wood Johnson Medical School, Piscataway, New Jersey, USA Reproductive Medicine Associates of New Jersey, Morristown, New Jersey, USA PubMed articlesGoogle scholar articles
  • Elisheva Kleinman Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA PubMed articlesGoogle scholar articles
  • Nathan R Treff Departments of Molecular Genetics, Microbiology and Immunology, UMDNJ-Robert Wood Johnson Medical School, Piscataway, New Jersey, USA Reproductive Medicine Associates of New Jersey, Morristown, New Jersey, USA PubMed articlesGoogle scholar articles
  • Cungui Mao Department of Medicine, Stony Brook University, Stony Brook, New York, USA Stony Brook Cancer Center, Stony Brook, New York, USA PubMed articlesGoogle scholar articles
  • Orly Elpeleg The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Orly Elpeleg, The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Ein karem, Jerusalem 91120, Israel; Elpeleg{at}hadassah.org.il Professor Cungui Mao, Department of Medicine and Stony Brook Cancer Center, The State University of New York at Stony Brook, Health Sciences Center, T15-023 Stony Brook, NY 11794-8155, USA; cungui.mao@stonybrookmedicine.edu
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Citation

Edvardson S, Yi JK, Jalas C, et al
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Journal of Medical Genetics 2016;53:389-396.

Publication history

  • Received August 17, 2015
  • Revised November 16, 2015
  • Accepted December 21, 2015
  • First published January 20, 2016.
Online issue publication 
May 24, 2016

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