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2. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. Manoli I; Gebremariam A; McCoy S; Pass AR; Gagné J; Hall C; Ferry S; Van Ryzin C; Sloan JL; Sacchetti E; Catesini G; Rizzo C; Martinelli D; Spada M; Dionisi-Vici C; Venditti CP J Inherit Metab Dis; 2023 Jul; 46(4):554-572. PubMed ID: 37243446 [TBL] [Abstract][Full Text] [Related]
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4. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Barshop BA; Yoshida I; Ajami A; Sweetman L; Wolff JA; Sweetman FR; Prodanos C; Smith M; Nyhan WL Pediatr Res; 1991 Jul; 30(1):15-22. PubMed ID: 1909779 [TBL] [Abstract][Full Text] [Related]
5. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238 [TBL] [Abstract][Full Text] [Related]
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7. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. Merinero B; Pérez B; Pérez-Cerdá C; Rincón A; Desviat LR; Martínez MA; Sala PR; García MJ; Aldamiz-Echevarría L; Campos J; Cornejo V; Del Toro M; Mahfoud A; Martínez-Pardo M; Parini R; Pedrón C; Peña-Quintana L; Pérez M; Pourfarzam M; Ugarte M J Inherit Metab Dis; 2008 Feb; 31(1):55-66. PubMed ID: 17957493 [TBL] [Abstract][Full Text] [Related]
8. Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis. Dello Strologo L; Spada M; Vici CD; Atti MCD; Rheault M; Bjerre AK; Boyer O; Calvo PL; D'Antiga L; Harshman LA; Hörster F; Kölker S; Jahnukainen T; Knops N; Krug P; Krupka K; Lee A; Levtchenko E; Marks SD; Stojanovic J; Martelli L; Mazariegos G; Montini G; Shenoy M; Sidhu S; Spada M; Tangeras T; Testa S; Vijay S; Wac K; Wennberg L; Concepcion W; Garbade SF; Tönshoff B Mol Genet Metab; 2022 Nov; 137(3):265-272. PubMed ID: 36240580 [TBL] [Abstract][Full Text] [Related]
9. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. Manoli I; Myles JG; Sloan JL; Shchelochkov OA; Venditti CP Genet Med; 2016 Apr; 18(4):386-95. PubMed ID: 26270765 [TBL] [Abstract][Full Text] [Related]
10. Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. Brassier A; Boyer O; Valayannopoulos V; Ottolenghi C; Krug P; Cosson MA; Touati G; Arnoux JB; Barbier V; Bahi-Buisson N; Desguerre I; Charbit M; Benoist JF; Dupic L; Aigrain Y; Blanc T; Salomon R; Rabier D; Guest G; de Lonlay P; Niaudet P Mol Genet Metab; 2013; 110(1-2):106-10. PubMed ID: 23751327 [TBL] [Abstract][Full Text] [Related]
11. The use of metronidazole in management of methylmalonic and propionic acidaemias. Thompson GN; Chalmers RA; Walter JH; Bresson JL; Lyonnet SL; Reed PJ; Saudubray JM; Leonard JV; Halliday D Eur J Pediatr; 1990 Aug; 149(11):792-6. PubMed ID: 2226555 [TBL] [Abstract][Full Text] [Related]
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17. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Manoli I; Sysol JR; Li L; Houillier P; Garone C; Wang C; Zerfas PM; Cusmano-Ozog K; Young S; Trivedi NS; Cheng J; Sloan JL; Chandler RJ; Abu-Asab M; Tsokos M; Elkahloun AG; Rosen S; Enns GM; Berry GT; Hoffmann V; DiMauro S; Schnermann J; Venditti CP Proc Natl Acad Sci U S A; 2013 Aug; 110(33):13552-7. PubMed ID: 23898205 [TBL] [Abstract][Full Text] [Related]
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19. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. Haarmann A; Mayr M; Kölker S; Baumgartner ER; Schnierda J; Hopfer H; Devuyst O; Baumgartner MR Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221 [TBL] [Abstract][Full Text] [Related]
20. In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism. Thompson GN; Walter JH; Bresson JL; Bonnefont JP; Saudubray JM; Leonard JV; Halliday D Eur J Pediatr; 1990 Mar; 149(6):408-11. PubMed ID: 2332010 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]