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3. Propionic acidemia: a neuropathology case report and review of prior cases. Feliz B; Witt DR; Harris BT Arch Pathol Lab Med; 2003 Aug; 127(8):e325-8. PubMed ID: 12873194 [TBL] [Abstract][Full Text] [Related]
4. Propionic acidemia--biochemical studies. Barash V; Elpeleg O; Amit R; Gottfried S; Yatziv S; Gutman A Isr J Med Sci; 1989 Feb; 25(2):103-6. PubMed ID: 2495260 [TBL] [Abstract][Full Text] [Related]
5. [Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry]. Cifuentes Y; De la Hoz I; Bermúdez M; Arteaga C Biomedica; 2008 Mar; 28(1):10-7. PubMed ID: 18645657 [TBL] [Abstract][Full Text] [Related]
6. Neurologic nonmetabolic presentation of propionic acidemia. Nyhan WL; Bay C; Beyer EW; Mazi M Arch Neurol; 1999 Sep; 56(9):1143-7. PubMed ID: 10488817 [TBL] [Abstract][Full Text] [Related]
8. Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia. Gotoh K; Nakajima Y; Tajima G; Watanabe Y; Hotta Y; Kataoka T; Kawade Y; Sugiyama N; Ito T; Kimura K; Maeda Y J Chromatogr B Analyt Technol Biomed Life Sci; 2017 Mar; 1046():195-199. PubMed ID: 28189105 [TBL] [Abstract][Full Text] [Related]
9. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Pérez B; Desviat LR; Rodríguez-Pombo P; Clavero S; Navarrete R; Perez-Cerdá C; Ugarte M Mol Genet Metab; 2003 Jan; 78(1):59-67. PubMed ID: 12559849 [TBL] [Abstract][Full Text] [Related]
10. [Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy]. Hsu WC; Lin SP; Huang FY; Wang PA; Hsiao KJ Zhonghua Yi Xue Za Zhi (Taipei); 1990 Nov; 46(5):306-10. PubMed ID: 2178070 [TBL] [Abstract][Full Text] [Related]
11. Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli. Chloupková M; Ravn K; Schwartz M; Kraus JP Mol Genet Metab; 2000 Dec; 71(4):623-32. PubMed ID: 11136555 [TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase. Chadefaux B; Augereau C; Rabier D; Rocchiccioli F; Boué J; Oury JF; Kamoun P Prenat Diagn; 1988 Feb; 8(2):161-4. PubMed ID: 3362779 [TBL] [Abstract][Full Text] [Related]
14. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Yorifuji T; Kawai M; Muroi J; Mamada M; Kurokawa K; Shigematsu Y; Hirano S; Sakura N; Yoshida I; Kuhara T; Endo F; Mitsubuchi H; Nakahata T Hum Genet; 2002 Aug; 111(2):161-5. PubMed ID: 12189489 [TBL] [Abstract][Full Text] [Related]
17. Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. Ohura T; Miyabayashi S; Narisawa K; Tada K Hum Genet; 1991 May; 87(1):41-4. PubMed ID: 2037281 [TBL] [Abstract][Full Text] [Related]
18. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia. Kuhara T; Shinka T; Matsuo M; Matsumoto I Clin Chim Acta; 1982 Aug; 123(1-2):101-9. PubMed ID: 7116632 [TBL] [Abstract][Full Text] [Related]
19. L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. Roe CR; Millington DS; Maltby DA; Bohan TP; Hoppel CL J Clin Invest; 1984 Jun; 73(6):1785-8. PubMed ID: 6725560 [TBL] [Abstract][Full Text] [Related]
20. Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. Libert R; Van Hoof F; Thillaye M; Vincent MF; Nassogne MC; de Hoffmann E; Schanck A Clin Chim Acta; 2000 May; 295(1-2):87-96. PubMed ID: 10767396 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]