Orna Staretz‐Chacham

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Michael Volodarsky, Barak Markus, Idan Cohen et al. · Human Mutation · 2013 · 90 citations

Bone Disease, Sclerostin, Developmental Biology +15

A safety trial of high dose glyceryl triacetate for Canavan disease

Reeval Segel, Yair Anikster, Shoshana Zevin et al. · Molecular Genetics and Metabolism · 2011 · 53 citations

Medicine, Canavan Disease, Safety Trial +2

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura Adang, Lars Schlotawa, Samuel Groeschel et al. · Journal of Inherited Metabolic Disease · 2020 · 45 citations · Full text

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan et al. · Clinical Genetics · 2016 · 40 citations · Full text

Timm50 Gene, Neurodegenerative Diseases, Mitochondrial Epileptic Encephalopathy +15

Glyceryl triacetate for Canavan disease: A low‐dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model

Chikkathur N. Madhavarao, Peethambaran Arun, Yair Anikster et al. · Journal of Inherited Metabolic Disease · 2009 · 37 citations