Wednesday, December 21, 2011
Orphan designation interferon gamma for the treatment of Friedreich’s ataxia.
On 9 December 2011, orphan designation (EU/3/11/935) was granted by the European Commission to Prof. Roberto Testi, Italy, for interferon gamma for the treatment of Friedreich’s ataxia.
Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy
Molecular Genetics and Metabolism, In Press, Corrected Proof, doi:10.1016/j.ymgme.2011.11.193
Michael J. Goldenthal a, b, Teddy Kuruvilla b, Shirish Damle b, Leon Salganicoff b, Sudip Sheth b, Nidhi Shah b, Harold Marks a, b, Divya Khurana a, Ignacio Valencia a, Agustin Legido a.
a Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
b Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
Keywors: Respiratory chain, Mitochondrial disease, Buccal swab, biopsied skeletal muscle, mitochondrial enzyme activities, Buccal citrate synthase, mitochondrial frataxin levels, relatively high correlation (over 82%), non-invasive.
Michael J. Goldenthal a, b, Teddy Kuruvilla b, Shirish Damle b, Leon Salganicoff b, Sudip Sheth b, Nidhi Shah b, Harold Marks a, b, Divya Khurana a, Ignacio Valencia a, Agustin Legido a.
a Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
b Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
Keywors: Respiratory chain, Mitochondrial disease, Buccal swab, biopsied skeletal muscle, mitochondrial enzyme activities, Buccal citrate synthase, mitochondrial frataxin levels, relatively high correlation (over 82%), non-invasive.
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