title: Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.
authors: From St. George's (B.E.B., M.D.B.), University of London, UK; Institute of Neurology (M.S., P.T.), University of Verona; University Hospital "Spedali Civili" (M.F.), Brescia, Italy; and Kings College Hospital (N.M.), London, UK.
authors: Bridget E
authors: BE
authors: Bax
authors: Murray D
authors: MD
authors: Bain
authors: Mauro
authors: M
authors: Scarpelli
authors: Massimiliano
authors: M
authors: Filosto
authors: Paola
authors: P
authors: Tonin
authors: Nicholas
authors: N
authors: Moran
mesh_terms: D000328:Adult; D001804:Blood Transfusion, Autologous / Q000379:methods*; D004926:Escherichia coli / Q000201:enzymology; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000188:drug therapy / Q000628:therapy*; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000188:drug therapy / Q000628:therapy*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D013939:Thymidine Phosphorylase / Q000008:administration & dosage / Q000009:adverse effects / Q000494:pharmacology*; D016896:Treatment Outcome; D028361:Mitochondrial Diseases
chemical_list: D013939:Thymidine Phosphorylase
references: J Inherit Metab Dis. 2011 Dec;34(6):1199-203
references: 21503690
references: Neurology. 2008 Aug 26;71(9):686-8
references: 18725595
references: Bone Marrow Transplant. 2011 Mar;46(3):330-337
references: 20436523
references: Biochim Biophys Acta. 2012 May;1820(5):625-31
references: 22274133
references: J Neurol. 2012 Dec;259(12):2699-706
references: 22711161
references: Ann Neurol. 2000 Jun;47(6):792-800
references: 10852545