Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

The American Journal of Human Genetics - Tập 83 - Trang 489-494 - 2008
Avraham Zeharia1,2, Avraham Shaag1, Riekelt H. Houtkooper3, Tareq Hindi4, Pascale de Lonlay5, Gilli Erez6, Laurence Hubert5, Ann Saada1, Yves de Keyzer5, Gideon Eshel7, Frédéric M. Vaz3, Ophry Pines8, Orly Elpeleg1
1The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
2Day Hospitalization Unit, Schneider Children's Medical Center and Sackler School of Medicine, Tel Aviv University, Petach Tikvah 49202, Israel
3Academic Medical Center, Departments of Clinical Chemistry and Pediatrics, Laboratory of Genetic Metabolic Diseases, Amsterdam 1105 AZ, The Netherlands
4Department of Pediatrics, Augusta Victoria Hospital, Jerusalem, Israel
5Service de Maladies Metaboliques, Departement de Pediatrie, Hopital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris, INSERM-U781, Université Paris Descartes, Paris 75015, France
6Center for Research, Prevention and Treatment of Atherosclerosis and Department of Internal Medicine, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
7Pediatric Intensive Care Unit, Assaf Harofeh Medical Center, Zrifin, and Sackler School of Medicine, Tel Aviv University, Zrifin 70300, Israel
8Department of Molecular Biology, Hebrew University Medical School, Jerusalem 91120, Israel

Tài liệu tham khảo

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