Journal articles on the topic 'Methylmalonic aciduria'
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Fowler, Brian. "Methylmalonic aciduria articles." Journal of Inherited Metabolic Disease 31, no. 1 (January 16, 2008): 4. http://dx.doi.org/10.1007/s10545-007-9980-8.
Full textDeodato, Federica, Sara Boenzi, Filippo M. Santorelli, and Carlo Dionisi-Vici. "Methylmalonic and propionic aciduria." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 142C, no. 2 (2006): 104–12. http://dx.doi.org/10.1002/ajmg.c.30090.
Full textBrass, E. P., and S. P. Stabler. "Carnitine metabolism in the vitamin B-12-deficient rat." Biochemical Journal 255, no. 1 (October 1, 1988): 153–59. http://dx.doi.org/10.1042/bj2550153.
Full textCorazza, F., D. Blum, A. Clercx, Y. Mardens, and P. Fondu. "Erythroblastopenia Associated with Methylmalonic Aciduria." Neonatology 70, no. 5 (1996): 304–10. http://dx.doi.org/10.1159/000244380.
Full textAlhaj, Safa, Mine Ozdil, Isa Ozyilmaz, Gurkan Altun, Ahmet Aydin, and Hasan Onal. "Combined methylmalonic aciduria and homocystinuria." Journal of Pediatric Neurology 06, no. 01 (July 30, 2015): 073–76. http://dx.doi.org/10.1055/s-0035-1557421.
Full textInoue, F., N. Terada, S. Nukina, N. Kodo, A. Kinugasa, and T. Sawada. "Methylmalonic aciduria with pathological fracture." Journal of Inherited Metabolic Disease 16, no. 6 (1993): 1052–53. http://dx.doi.org/10.1007/bf00711530.
Full textMAHONEY, MAURICE J., LEON E. ROSENBERG, BENGT LNDBLAD, JOHAN WALDENSTROM, and ROLF ZETTERSTROM. "PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA." Acta Paediatrica 64, no. 1 (January 21, 2008): 44–48. http://dx.doi.org/10.1111/j.1651-2227.1975.tb04378.x.
Full textNAKAI, AKIO, YOUSUKE SHIGEMATSU, MASAKAZU SAITO, YOSHIHARU KIKAWA, and MASAKATSU SUDO. "Pathophysiologic Study on Methylmalonic Aciduria." Pediatric Research 30, no. 1 (July 1991): 5???10. http://dx.doi.org/10.1203/00006450-199107010-00002.
Full textPeters, Heidi L., James J. Pitt, Leonie R. Wood, Natasha J. Hamilton, Joseph P. Sarsero, and Nicole E. Buck. "Mouse Models for Methylmalonic Aciduria." PLoS ONE 7, no. 7 (July 9, 2012): e40609. http://dx.doi.org/10.1371/journal.pone.0040609.
Full textAlkhunaizi, Ahmed M., and Nouriya Al-Sannaa. "Renal Involvement in Methylmalonic Aciduria." Kidney International Reports 2, no. 5 (September 2017): 956–60. http://dx.doi.org/10.1016/j.ekir.2017.04.007.
Full textMartens, Daniëlle H. J., Jaap A. Bakker, Syb B. van der Meer, and Leo J. M. Spaapen. "Unexplained familial benign methylmalonic aciduria." European Journal of Pediatrics 161, no. 4 (March 2, 2002): 219–20. http://dx.doi.org/10.1007/s00431-002-0930-z.
Full textBarić, Ivo. "Methylmalonic aciduria: current faces of a “classical” organic aciduria." Journal of Inherited Metabolic Disease 31, no. 3 (May 30, 2008): 293–94. http://dx.doi.org/10.1007/s10545-008-9977-y.
Full textBaranov, Alexander A., Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, et al. "Methylmalonic Aciduria in Children: Clinical Recommendations." Pediatric pharmacology 14, no. 4 (January 1, 2017): 258–71. http://dx.doi.org/10.15690/pf.v14i4.1757.
Full textNicolescu, Alina, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, et al. "Monitoring Methylmalonic Aciduria by NMR Urinomics." Molecules 25, no. 22 (November 14, 2020): 5312. http://dx.doi.org/10.3390/molecules25225312.
Full textCiani, Federica, Maria A. Donati, Giovanni Tulli, Giovanni M. Poggi, Elisabetta Pasquini, David S. Rosenblatt, and Enrico Zammarchi. "Lethal late onset cblB methylmalonic aciduria." Critical Care Medicine 28, no. 6 (June 2000): 2119–21. http://dx.doi.org/10.1097/00003246-200006000-00078.
Full textSaridakis, Vivian, Alexander Yakunin, Xiaohui Xu, Ponni Anandakumar, Micha Pennycooke, Jun Gu, Frederick Cheung, et al. "The Structural Basis for Methylmalonic Aciduria." Journal of Biological Chemistry 279, no. 22 (March 25, 2004): 23646–53. http://dx.doi.org/10.1074/jbc.m401395200.
Full textHonjo, Rachel S., Erasmo B. Casella, Maria A. Vieira, Débora R. Bertola, Lilian M. J. Albano, Luiz A. Oliveira, Shosuke Nomachi, et al. "Spondylocostal Dysostosis Associated with Methylmalonic Aciduria." Genetic Testing and Molecular Biomarkers 13, no. 2 (April 2009): 181–83. http://dx.doi.org/10.1089/gtmb.2008.0069.
Full textFrancis, J. H., L. Rao, and R. B. Rosen. "Methylmalonic aciduria and homocystinuria-associated maculopathy." Eye 24, no. 11 (August 27, 2010): 1731–32. http://dx.doi.org/10.1038/eye.2010.115.
Full textIşikay, Sedat, Levent Temel, and Mehmet Keskin. "Imaging Findings Associated With Methylmalonic Aciduria." Pediatric Neurology 50, no. 4 (April 2014): 435–36. http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.008.
Full textPenn, D., E. Schmidt-Sommerfeld, C. Jakobs, and L. L. Bieber. "Amniotic fluid propionylcarnitine in methylmalonic aciduria." Journal of Inherited Metabolic Disease 10, no. 4 (December 1987): 376–82. http://dx.doi.org/10.1007/bf01799980.
Full textvan den Bergh, F. A. J. T. M., H. del Canho, and M. Duran. "Methylmalonic aciduria and sudden child death." Journal of Inherited Metabolic Disease 15, no. 6 (November 1992): 897–98. http://dx.doi.org/10.1007/bf01800229.
Full textAdjalla, Charles E., Angela R. Hosack, Brian M. Gilfix, Estelle Lamothe, Sophie Sun, Adrian Chan, Stacey Evans, Nora V. Matiaszuk, and David S. Rosenblatt. "Seven novel mutations inmut methylmalonic aciduria." Human Mutation 11, no. 4 (1998): 270–74. http://dx.doi.org/10.1002/(sici)1098-1004(1998)11:4<270::aid-humu3>3.0.co;2-t.
Full textFowler, B., L. Giles, I. B. Sardharwalla, P. Donnai, and J. K. Clayton. "First trimester diagnosis of methylmalonic aciduria." Prenatal Diagnosis 8, no. 3 (March 1988): 207–13. http://dx.doi.org/10.1002/pd.1970080307.
Full textGerhardt, M., E. M. Burke, I. K. Brandt, and D. W. Crabb. "Methylmalonic aciduria presenting in an adult." Journal of Inherited Metabolic Disease 14, no. 1 (January 1991): 113–14. http://dx.doi.org/10.1007/bf01804402.
Full textIles, R. A., A. J. Hind, and R. A. Chalmers. "Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias." Clinical Chemistry 31, no. 11 (November 1, 1985): 1795–801. http://dx.doi.org/10.1093/clinchem/31.11.1795.
Full textYazıcı, Havva, Ebru Canda, Hüseyin Onay, Sema Kalkan Uçar, Sara Habif, and Mahmut Çoker. "Persistent moderate methylmalonic aciduria in a patient with methylmalonyl coa epimerase deficiency." Turkish Journal of Pediatrics 64, no. 5 (2022): 946. http://dx.doi.org/10.24953/turkjped.2021.245.
Full textSewell, A. C., J. Herwig, and H. Böhles. "A case of familial ‘benign’ methylmalonic aciduria?" Journal of Inherited Metabolic Disease 19, no. 5 (September 1996): 696–97. http://dx.doi.org/10.1007/bf01799848.
Full textMathew, P. M., and J. A. Hamdan. "Transient diabetes mellitus in neonatal methylmalonic aciduria." Journal of Inherited Metabolic Disease 11, no. 2 (June 1988): 218–19. http://dx.doi.org/10.1007/bf01799878.
Full textDiss, Eleanor, Jay Iams, Nicholas Reed, Diane S. Roe, and Charles Roe. "Methylmalonic aciduria in pregnancy: A case report." American Journal of Obstetrics and Gynecology 172, no. 3 (March 1995): 1057–59. http://dx.doi.org/10.1016/0002-9378(95)90049-7.
Full textThiele, J., and JM Van Raamsdonk. "Gene discovery in methylmalonic aciduria and homocystinuria." Clinical Genetics 69, no. 5 (March 6, 2006): 402–3. http://dx.doi.org/10.1111/j.1399-0004.2006.00595c.x.
Full textChan, Randall, Leo Mascarenhas, Richard G. Boles, Nanda Kerkar, Yuri Genyk, and Rajkumar Venkatramani. "Hepatoblastoma in a patient with methylmalonic aciduria." American Journal of Medical Genetics Part A 167, no. 3 (February 18, 2015): 635–38. http://dx.doi.org/10.1002/ajmg.a.36925.
Full textRoe, Charles R., Eduard Struys, Robert M. Kok, Diane S. Roe, Robert A. Harris, and Cornelis Jakobs. "Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation." Molecular Genetics and Metabolism 65, no. 1 (September 1998): 35–43. http://dx.doi.org/10.1006/mgme.1998.2737.
Full textAllen, K. R., R. Khan, and D. Watson. "Use of a diode array detector in investigation of neonatal organic aciduria." Clinical Chemistry 31, no. 4 (April 1, 1985): 561–63. http://dx.doi.org/10.1093/clinchem/31.4.561.
Full textGradinger, Abigail B., Caroline Bélair, Lisa C. Worgan, Carter D. Li, Jocelyne Lavallée, David Roquis, David Watkins, and David S. Rosenblatt. "Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)." Human Mutation 28, no. 10 (2007): 1045. http://dx.doi.org/10.1002/humu.9507.
Full textDionisi-Vici, Carlo, Federica Deodato, Wulf Röschinger, William Rhead, and Bridget Wilcken. "‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry." Journal of Inherited Metabolic Disease 29, no. 2-3 (April 2006): 383–89. http://dx.doi.org/10.1007/s10545-006-0278-z.
Full textPuri, Vinod, Neera Chaudhry, Seema Kapoor, Aditya Murgai, and Aviraj Deshmukh. "Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria." Journal of Pediatric Neurosciences 10, no. 2 (2015): 140. http://dx.doi.org/10.4103/1817-1745.159203.
Full textBodamer, O. A. F., D. S. Rosenblatt, S. H. Appel, and A. L. Beaudet. "Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)." Neurology 56, no. 8 (April 24, 2001): 1113. http://dx.doi.org/10.1212/wnl.56.8.1113.
Full textHu, Ruimei, Nicole E. Buck, Mahmoud S. Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, et al. "Gene induction for the treatment of methylmalonic aciduria." Journal of Gene Medicine 11, no. 4 (April 2009): 361–69. http://dx.doi.org/10.1002/jgm.1297.
Full textCerone, Roberto, Maria Christina Schiaffino, Ubaldo Caruso, and Rosanna Gatti. "Facial anomalies in combined methylmalonic aciduria and homocystinuria." American Journal of Medical Genetics 95, no. 1 (2000): 87. http://dx.doi.org/10.1002/1096-8628(20001106)95:1<87::aid-ajmg20>3.0.co;2-q.
Full textBodamer, Olaf A., Trilochan Sahoo, Arthur L. Beaudet, William E. O'Brien, Teodoro Bottiglieri, Sylvia Stöckler-Ipsiroglu, Conrad Wagner, and Fernando Scaglia. "Creatine metabolism in combined methylmalonic aciduria and homocystinuria." Annals of Neurology 57, no. 4 (March 22, 2005): 557–60. http://dx.doi.org/10.1002/ana.20419.
Full textForny, Patrick, Michel Hochuli, Yusof Rahman, Maesha Deheragoda, Achim Weber, Julien Baruteau, and Stephanie Grunewald. "Liver neoplasms in methylmalonic aciduria: An emerging complication." Journal of Inherited Metabolic Disease 42, no. 5 (July 17, 2019): 793–802. http://dx.doi.org/10.1002/jimd.12143.
Full textCharpentier, C., M. Coude, J.-L. Perignon, A. Lombes, J.-M. Saudubray, and P. Divry. "A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test." Journal of Inherited Metabolic Disease 9, no. 4 (December 1986): 408–9. http://dx.doi.org/10.1007/bf01800500.
Full textLee, Eun Hye, Jung Min Ko, Jae-Min Kim, and Han-Wook Yoo. "Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria." Korean Journal of Pediatrics 51, no. 9 (2008): 964. http://dx.doi.org/10.3345/kjp.2008.51.9.964.
Full textBlecker, U., Y. Vandenplas, L. De Meirleir, L. De Raeve, and J. Ramet. "Acrodermatitis-Like Syndrome in Organic Aciduria." Pediatrics 93, no. 3 (March 1, 1994): 537. http://dx.doi.org/10.1542/peds.93.3.537.
Full textSörensen, Lene, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, and Rolf H. Zetterström. "Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data." International Journal of Neonatal Screening 6, no. 2 (May 27, 2020): 42. http://dx.doi.org/10.3390/ijns6020042.
Full textFadilah, Ala, Rebecca Musson, and Santosh R. Mordekar. "Acquired Vitamin B12 Deficiency in Infancy." Journal of Pediatric Neurology 17, no. 06 (October 2, 2018): 213–18. http://dx.doi.org/10.1055/s-0038-1670692.
Full textNakamura, Motonobu, and Yoshiki Tokura. "Methylmalonic aciduria presenting with recurrent multiple molluscum contagiosum lesions." Dermato-Endocrinology 2, no. 2 (April 2010): 60–61. http://dx.doi.org/10.4161/derm.2.2.13503.
Full textCelik, Muhittin, Emrah Can, Fatih Bolat, Sinan Uslu, Nihat Sever, and Hasan Onal. "Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report." Tuberculin Skin Test in Children 11, no. 3 (March 13, 2013): 133–37. http://dx.doi.org/10.5222/j.child.2011.133.
Full textBibi, H., Z. Gelman-Kohan, E. R. Baumgartner, and D. S. Rosenblatt. "Transcobalamin II deficiency with methylmalonic aciduria in three sisters." Journal of Inherited Metabolic Disease 22, no. 7 (October 1999): 765–72. http://dx.doi.org/10.1023/a:1005507204491.
Full textNinan, T. K., H. Thom, and G. Russell. "Oral vitamin B12 treatment of cobalamin-responsive methylmalonic aciduria." Journal of Inherited Metabolic Disease 15, no. 6 (November 1992): 939–40. http://dx.doi.org/10.1007/bf01800240.
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