Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Hanna Mandel; Shotaro Saita; Simon Edvardson; Chaim Jalas; Avraham Shaag; Dorit Goldsher; Euvgeni Vlodavsky; Thomas Langer; Orly Elpeleg

doi:10.1136/jmedgenet-2016-103922

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Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

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Hanna Mandel Metabolic Unit, Rambam Health Care Center, Rappaport School of Medicine, Technion, Haifa, Israel PubMed articles Google scholar articles
Shotaro Saita Institute for Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany PubMed articles Google scholar articles
Simon Edvardson The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Chaim Jalas Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA PubMed articles Google scholar articles
Avraham Shaag The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Dorit Goldsher MRI Unit, Rambam Medical Center, Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel PubMed articles Google scholar articles
Euvgeni Vlodavsky Department of Pathology, Rambam Medical Center, Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel PubMed articles Google scholar articles
Thomas Langer Institute for Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany PubMed articles Google scholar articles
Orly Elpeleg The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles

Correspondence to Professor Orly Elpeleg, The Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel; Elpeleg{at}hadassah.org.il

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Citation

Mandel H, Saita S, Edvardson S, et al

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Journal of Medical Genetics 2016;53:690-696.

Publication history

Received March 26, 2016
Revised April 15, 2016
Accepted April 19, 2016
First published May 12, 2016.

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March 05, 2018

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