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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

2008217 citationsJournal Articlebronze Open Access

Authors

Avraham Zeharia · Tel Aviv University

Avraham Shaag · Hadassah Medical Center

Riekelt H. Houtkooper · Amsterdam UMC Location University of Amsterdam

Tareq Hindi · Augusta Victoria Hospital

Pascale de Lonlay · Hôpital Necker-Enfants Malades

Gilli Erez · Hadassah Medical Center

Laurence Hubert

Topics & Keywords

Pancreatic function and diabetes Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus

Publication Details

Published in: The American Journal of Human Genetics

Volume 83, Issue 4, pp. 489-494

DOI: 10.1016/j.ajhg.2008.09.002

Field-Weighted Citation Impact: 7.35

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood | Researchclopedia

· Hôpital Necker-Enfants Malades

Ann Saada · Hadassah Medical Center

Yves de Keyzer · Hôpital Necker-Enfants Malades

Gideon Eshel · Tel Aviv University

Frédéric M. Vaz · Amsterdam UMC Location University of Amsterdam

Ophry Pines · Hebrew University of Jerusalem

Orly Elpeleg · Hadassah Medical Center