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

Medicine, Genetics, Molecular Genetics +17

A safety trial of high dose glyceryl triacetate for Canavan disease

Reeval Segel, Yair Anikster, Shoshana Zevin et al. · Molecular Genetics and Metabolism · 2011 · 54 citations

Life Sciences, Pharmacology, Glycobiology +5

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 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 38 citations

Pharmacy, Pharmacology, Toxicology +4