| ID |
Reference |
| F.2630 |
Abacan, M., & Boneh, A. (Aug 2013). Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol. Genet. Metab., 109, 397-401. doi:10.1016/j.ymgme.2013.05.018 |
| F.2840 |
Ah Mew, N., McCarter, R., Daikhin, Y., Nissim, I., Yudkoff, M., & Tuchman, M. (Jul 2010). N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics, 126, e208-14. doi:10.1542/peds.2010-0008 |
| F.240 |
Al-Hassnan, Z.N., Boyadjiev, S.A., Praphanphoj, V., Hamosh, A., Braverman, N.E., Thomas, G.H., & Geraghty, M.T. (2003). The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J. Inherit. Metab. Dis., 26(1):89-91. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12872849 |
| F.2962 |
Al-Owain, M., Kaya, N., Al-Shamrani, H., Al-Bakheet, A., Qari, A., Al-Muaigl, S., & Ghaziuddin, M. (2013). Autism spectrum disorder in a child with propionic acidemia. JIMD Rep, 7, 63-6. doi:10.1007/8904_2012_143 |
| F.533 |
Ameloot, K., Vlasselaers, D., Dupont, M., Meersseman, W., Desmet, L., Vanhaecke, J., Vermeer, N., Meyns, B., Pirenne, J., Cassiman, D., De Laet, C., Goyens, P., Malekzadeh-Milan, S.G., Biarent, D., Meulemans, A., & Debray, F.G. (May 2011). Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock. J. Pediatr., 158, 866-7; author reply 867. doi:10.1016/j.jpeds.2010.12.031 |
| F.3179 |
Arias, C., Raimann, E., Peredo, P., Cabello, J.F., Castro, G., Valiente, A., de la Parra, A., Bravo, P., Okuma, C., & Cornejo, V. (2014). Propionic acidemia and optic neuropathy: a report of two cases. JIMD Rep, 12, 1-4. doi:10.1007/8904_2013_234 |
| F.3315 |
Çaltik Yilmaz, A., Kiliç, M., Büyükkaragöz, B., Tayfur, A.Ç., & Koçak, M. (Jan 2015). Urolithiasis in an infant with propionic acidemia: questions. Pediatr. Nephrol., 30, 75-6. doi:10.1007/s00467-013-2653-y |
| F.448 |
Barshes, N.R., Vanatta, J.M., Patel, A.J., Carter, B.A., O'Mahony, C.A., Karpen, S.J., & Goss, J.A. (Nov 2006). Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant, 10, 773-81. doi:10.1111/j.1399-3046.2006.00569.x |
| F.485 |
Barshop, B.A., Yoshida, I., Ajami, A., Sweetman, L., Wolff, J.A., Sweetman, F.R., Prodanos, C., Smith, M., & Nyhan, W.L. (Jul 1991). Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr. Res., 30, 15-22. doi:10.1203/00006450-199107000-00004 |
| F.3457 |
Baruteau, J., Hargreaves, I., Krywawych, S., Chalasani, A., Land, J.M., Davison, J.E., Kwok, M.K., Christov, G., Karimova, A., Ashworth, M., Anderson, G., Prunty, H., Rahman, S., & Grünewald, S. (Jul 2014). Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism. Mitochondrion, 17, 150-6. doi:10.1016/j.mito.2014.07.001 |
| F.447 |
Baumgartner, D., Scholl-Bürgi, S., Sass, J.O., Sperl, W., Schweigmann, U., Stein, J.I., & Karall, D. (Feb 2007). Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J. Pediatr., 150, 192-7, 197.e1. doi:10.1016/j.jpeds.2006.11.043 |
| F.3399 |
Baumgartner, M.R., Hörster, F., Dionisi-Vici, C., Haliloglu, G., Karall, D., Chapman, K.A., Huemer, M., Hochuli, M., Assoun, M., Ballhausen, D., Burlina, A., Fowler, B., Grünert, S.C., Grünewald, S., Honzik, T., Merinero, B., Pérez-Cerdá, C., Scholl-Bürgi, S., Skovby, F., Wijburg, F., MacDonald, A., Martinelli, D., Sass, J.O., Valayannopoulos, V., & Chakrapani, A. (Sep 2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis, 9, 130. doi:10.1186/s13023-014-0130-8 |
| F.497 |
Bergman, A.J., Van der Knaap, M.S., Smeitink, J.A., Duran, M., Dorland, L., Valk, J., & Poll-The, B.T. (Sep 1996). Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr. Res., 40, 404-9. doi:10.1203/00006450-199609000-00007 |
| F.516 |
Bergstrøm, T., Greter, J., Levin, A.H., Steen, G., Tryding, N., & Wass, U. (Apr 1981). Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine. Scand. J. Clin. Lab. Invest., 41(2):117-26. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7313494 |
| F.449 |
Bhan, A.K., & Brody, C. (2001 Jul-Aug). Propionic acidemia: a rare cause of cardiomyopathy. Congest Heart Fail, 7(4):218-219. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11828170 |
| F.3189 |
Blecker, U., De Meirleir, L., De Raeve, L., Ramet, J., & Vandenplas, Y. (Mar 1994). Acrodermatitis-like syndrome in organic aciduria. Pediatrics, 93(3):537. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8115227 |
| F.3194 |
Broomfield, A., Gunny, R., Prabhakar, P., & Grunewald, S. (Dec 2010). Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?. Neuropediatrics, 41, 256-60. doi:10.1055/s-0031-1273720 |
| G.79 |
Bruce Barshop (2004?). Disorders of Valine and Isoleucine Metabolism. University of California San Diego. |
| F.3196 |
Bruggink, J.L., van Spronsen, F.J., Wijnberg-Williams, B.J., & Bos, A.F. (Jul 2009). Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood. Early Hum. Dev., 85, 461-5. doi:10.1016/j.earlhumdev.2009.04.002 |
| F.3199 |
Bulan, K., Dogan, M., Kaba, S., Dogan, Ş.Z., Akbayram, S., & Öner, A.F. (Apr 2014). Immune thrombocytopenic purpura in a case of propionic acidemia: case report. J. Pediatr. Hematol. Oncol., 36, 255-6. doi:10.1097/MPH.0b013e31829b92fe |
| F.61 |
Bultron, G., Seashore, M.R., Pashankar, D.S., & Husain, S.Z. (Sep 2008). Recurrent acute pancreatitis associated with propionic acidemia. J. Pediatr. Gastroenterol. Nutr., 47, 370-1. doi:10.1097/MPG.0b013e3181132252 |
| F.593 |
Burlina, A.B., Dionisi-Vici, C., Piovan, S., Saponara, I., Bartuli, A., Sabetta, G., & Zacchello, F. (1995). Acute pancreatitis in propionic acidaemia. J. Inherit. Metab. Dis., 18(2):169-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7564238 |
| F.591 |
Burns, S.P., Iles, R.A., Saudubray, J.M., & Chalmers, R.A. (Jan 1996). Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism. Eur. J. Pediatr., 155(1):31-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8750807 |
| F.450 |
Burton, B.K. (Dec 1998). Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics, 102(6):E69. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9832597 |
| F.3273 |
Chapman, K.A., Gropman, A., MacLeod, E., Stagni, K., Summar, M.L., Ueda, K., Ah Mew, N., Franks, J., Island, E., Matern, D., Pena, L., Smith, B., Sutton, V.R., Urv, T., Venditti, C., & Chakrapani, A. (Jan 2012). Acute management of propionic acidemia. Mol. Genet. Metab., 105, 16-25. doi:10.1016/j.ymgme.2011.09.026 |
| F.3322 |
Chapman, K.A., Summar, M.L., & Enns, G.M. (May 2012). Propionic acidemia: to liver transplant or not to liver transplant?. Pediatr Transplant, 16, 209-10. doi:10.1111/j.1399-3046.2012.01649.x |
| F.3460 |
Charbit-Henrion, F., Lacaille, F., McKiernan, P., Girard, M., de Lonlay, P., Valayannopoulos, V., Ottolenghi, C., Chakrapani, A., Preece, M., Sharif, K., Chardot, C., Hubert, P., & Dupic, L. (Mar 2015). Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. Am. J. Transplant., 15, 786-91. doi:10.1111/ajt.13027 |
| G.20 |
Charles R Scriver editor (2001). The Metabolic and Molecular Basis of Inherited Disease 8th edition. McGraw Hill Company Inc.. |
| F.463 |
Chemelli, A.P., Schocke, M., Sperl, W., Trieb, T., Aichner, F., & Felber, S. (Jun 2000). Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging, 11(6):596-600. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10862057 |
| F.598 |
Collins, J., & Kelly, D. (Jan 1994). Cardiomyopathy in propionic acidaemia. Eur. J. Pediatr., 153(1):53. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8313926 |
| F.446 |
Cox, G.F. (2007). Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. Prog. Pediatr. Cardiol., 24, 15-25. doi:10.1016/j.ppedcard.2007.08.013 |
| F.535 |
Daniotti, M., la Marca, G., Fiorini, P., & Filippi, L. (Jan 2011). New developments in the treatment of hyperammonemia: emerging use of carglumic acid. Int J Gen Med, 4, 21-8. doi:10.2147/IJGM.S10490 |
| F.3384 |
Davison, J.E., Davies, N.P., Wilson, M., Sun, Y., Chakrapani, A., McKiernan, P.J., Walter, J.H., Gissen, P., & Peet, A.C. (May 2011). MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis, 6, 19. doi:10.1186/1750-1172-6-19 |
| F.57 |
de Baulny, H.O., Benoist, J.F., Rigal, O., Touati, G., Rabier, D., & Saudubray, J.M. (2005). Methylmalonic and propionic acidaemias: management and outcome. J. Inherit. Metab. Dis., 28, 415-23. doi:10.1007/s10545-005-7056-1 |
| F.444 |
de Keyzer, Y., Valayannopoulos, V., Benoist, J.F., Batteux, F., Lacaille, F., Hubert, L., Chrétien, D., Chadefeaux-Vekemans, B., Niaudet, P., Touati, G., Munnich, A., & de Lonlay, P. (Jul 2009). Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr. Res., 66, 91-5. doi:10.1203/PDR.0b013e3181a7c270 |
| F.500 |
De Raeve, L., De Meirleir, L., Ramet, J., Vandenplas, Y., & Gerlo, E. (Mar 1994). Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria. J. Pediatr., 124(3):416-20. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8120711 |
| F.3320 |
de Sain-van der Velden, M.G., van der Ham, M., Verhoeven-Duif, N.M., Visser, G., & van Hasselt, P.M. (Jul 2014). Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J. Inherit. Metab. Dis., 37, 651-2. doi:10.1007/s10545-014-9706-7 |
| F.585 |
Decsi, T., Sperl, W., & Koletzko, B. (Nov 1997). Essential fatty acids in clinically stable children with propionic acidaemia. J. Inherit. Metab. Dis., 20(6):778-82. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9427145 |
| F.3386 |
Dejean de la Bâtie, C., Barbier, V., Valayannopoulos, V., Touati, G., Maltret, A., Brassier, A., Arnoux, J.B., Grévent, D., Chadefaux, B., Ottolenghi, C., Canouï, P., & de Lonlay, P. (Feb 2014). Acute psychosis in propionic acidemia: 2 case reports. J. Child Neurol., 29, 274-9. doi:10.1177/0883073813508812 |
| F.247 |
Deodato, F., Boenzi, S., Santorelli, F.M., & Dionisi-Vici, C. (May 2006). Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet, 142C, 104-12. doi:10.1002/ajmg.c.30090 |
| G.78 |
Dianne Frazier (2002?). MMA and PROP. University of North Carolina. |
| F.3387 |
Dweikat, I.M., Naser, E.N., Abu Libdeh, A.I., Naser, O.J., Abu Gharbieh, N.N., Maraqa, N.F., & Abu Libdeh, B.Y. (May 2011). Propionic acidemia mimicking diabetic ketoacidosis. Brain Dev., 33, 428-31. doi:10.1016/j.braindev.2010.06.016 |
| G.64 |
Elaina Jurecki (April, 2008). Powerpoint Presentation. Kaiser Permanente. |
| G.12 |
Elaina Jurecki (Winter 2009). An Overview of Nutritional Management for Organic Acidemia. OAA Newsletter. |
| F.438 |
Evans, S., Shelton, F., Holden, C., Daly, A., Hopkins, V., & MacDonald, A. (Sep 2010). Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. Arch. Dis. Child., 95, 668-72. doi:10.1136/adc.2008.148338 |
| F.437 |
Feillet, F., Bodamer, O.A., Dixon, M.A., Sequeira, S., & Leonard, J.V. (May 2000). Resting energy expenditure in disorders of propionate metabolism. J. Pediatr., 136, 659-63. doi:10.1067/mpd.2000.104290 |
| F.493 |
Filipowicz, H.R., Ernst, S.L., Ashurst, C.L., Pasquali, M., & Longo, N. (Jun 2006). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol. Genet. Metab., 88, 123-30. doi:10.1016/j.ymgme.2005.11.016 |
| F.2859 |
Filippi, L., Gozzini, E., Cavicchi, C., Morrone, A., Fiorini, P., Donzelli, G., Malvagia, S., & la Marca, G. (Dec 2009). Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. J. Inherit. Metab. Dis., 32 Suppl 1, S179-86. doi:10.1007/s10545-009-1141-9 |
| F.3400 |
Filippi, L., Gozzini, E., Fiorini, P., Malvagia, S., la Marca, G., & Donati, M.A. (2010). N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology, 97, 286-90. doi:10.1159/000255168 |
| F.532 |
Fragaki, K., Cano, A., Benoist, J.F., Rigal, O., Chaussenot, A., Rouzier, C., Bannwarth, S., Caruba, C., Chabrol, B., & Paquis-Flucklinger, V. (May 2011). Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. Mitochondrion, 11, 533-6. doi:10.1016/j.mito.2011.02.002 |
| G.76 |
Frank Bowling (January 2003). Prenatal treatment with carnitine in PROP. Metab-L Listserv. |
| F.3318 |
Fujisawa, D., Nakamura, K., Mitsubuchi, H., Ohura, T., Shigematsu, Y., Yorifuji, T., Kasahara, M., Horikawa, R., & Endo, F. (Dec 2013). Clinical features and management of organic acidemias in Japan. J. Hum. Genet., 58, 769-74. doi:10.1038/jhg.2013.97 |
| F.3461 |
Gallego-Villar, L., Pérez, B., Ugarte, M., Desviat, L.R., & Richard, E. (Sep 2014). Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts. Biochem. Biophys. Res. Commun., 452, 457-61. doi:10.1016/j.bbrc.2014.08.091 |
| F.525 |
Gebhardt, B., Dittrich, S., Parbel, S., Vlaho, S., Matsika, O., & Bohles, H. (2005). N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J. Inherit. Metab. Dis., 28, 241-4. doi:10.1007/s10545-005-5260-7 |
| F.244 |
Gilmore, A., Bock, H.G., & Nowicki, M. (Dec 2008). Hyperamylasemia/hyperlipasemia in a child with propionic acidemia. Am. J. Med. Genet. A, 146A, 3090-1. doi:10.1002/ajmg.a.32561 |
| F.2807 |
Grünert, S.C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O.A., Baumgartner, M.R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J.B., Steinfeld, R., Beblo, S., Koch, H.G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J.P., Superti-Furga, A., Schwab, K.O., & Sass, J.O. (Jan 2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis, 8, 6. doi:10.1186/1750-1172-8-6 |
| F.498 |
Griffin, T.A., Hostoffer, R.W., Tserng, K.Y., Lebovitz, D.J., Hoppel, C.L., Mosser, J.L., Kaplan, D., & Kerr, D.S. (Jul 1996). Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia. Acta Paediatr., 85(7):875-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8819559 |
| F.2810 |
Gupta, N., & Kabra, M. (Jul 2011). Acute management of sick infants with suspected inborn errors of metabolism. Indian J Pediatr, 78, 854-9. doi:10.1007/s12098-011-0422-0 |
| F.2811 |
Haas, R.H., Marsden, D.L., Capistrano-Estrada, S., Hamilton, R., Grafe, M.R., Wong, W., & Nyhan, W.L. (Jan 1995). Acute basal ganglia infarction in propionic acidemia. J. Child Neurol., 10, 18-22. doi:10.1177/088307389501000104 |
| F.595 |
Henriquez, H., el Din, A., Ozand, P.T., Subramanyam, S.B., & al Gain, S.I. (Nov 1994). Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev., 16 Suppl:86-93. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726386 |
| F.2731 |
Hussein, M.H., Hashimoto, T., Suzuki, T., Daoud, G.A., Goto, T., Nakajima, Y., Kato, T., Hibi, M., Tomishige, H., Hara, F., Kato, S., Kakita, H., Kamei, M., Ito, T., Kato, I., Sugioka, A., & Togari, H. (Feb 2013). Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1. Ann. Transplant., 18, 63-8. doi:10.12659/AOT.883820 |
| F.511 |
Hyman, S.L., Porter, C.A., Page, T.J., Iwata, B.A., Kissel, R., & Batshaw, M.L. (Oct 1987). Behavior management of feeding disturbances in urea cycle and organic acid disorders. J. Pediatr., 111(4):558-62. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2443629 |
| F.574 |
Ierardi-Curto, L., Kaplan, P., Saitta, S., Mazur, A., & Berry, G.T. (Feb 2000). The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. J. Inherit. Metab. Dis., 23(1):85-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10682312 |
| F.442 |
Iwashima, S., Ishikawa, T., Ohzeki, T., & Endou, Y. (Aug 2010). Delayed enhancement cardiac magnetic resonance imaging in propionic acidemia. Pediatr Cardiol, 31, 884-6. doi:10.1007/s00246-010-9723-8 |
| F.2816 |
Jameson, E., & Walter, J. (Sep 2008). Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. Pediatr Cardiol, 29, 969-70. doi:10.1007/s00246-007-9160-5 |
| G.19 |
John H. Walter, editor (2006). Inborn Metabolic Diseases Diagnosis and Treatment. Royal Manchester Children Hospital Manchester Great Britian. |
| F.519 |
Jones, S., Reed, C.A., Vijay, S., Walter, J.H., & Morris, A.A. (Dec 2008). N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. J. Inherit. Metab. Dis., 31 Suppl 2, S219-22. doi:10.1007/s10545-008-0777-1 |
| F.253 |
Kahler, S.G., Millington, D.S., Cederbaum, S.D., Vargas, J., Bond, L.D., Maltby, D.A., Gale, D.S., & Roe, C.R. (Aug 1989). Parenteral nutrition in propionic and methylmalonic acidemia. J. Pediatr., 115(2):235-41. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2502611 |
| F.557 |
Kakavand, B., Schroeder, V.A., & Di Sessa, T.G. (2006 Jan-Feb). Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol, 27, 160-161. doi:10.1007/s00246-005-1129-7 |
| F.2738 |
Kalloghlian, A., Gleispach, H., & Ozand, P.T. (Apr 1992). A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. J. Child Neurol., 7 Suppl, S88-91. doi:10.1177/08830738920070011411 |
| F.2740 |
Kasahara, M., Sakamoto, S., Kanazawa, H., Karaki, C., Kakiuchi, T., Shigeta, T., Fukuda, A., Kosaki, R., Nakazawa, A., Ishige, M., Nagao, M., Shigematsu, Y., Yorifuji, T., Naiki, Y., & Horikawa, R. (May 2012). Living-donor liver transplantation for propionic acidemia. Pediatr Transplant, 16, 230-4. doi:10.1111/j.1399-3046.2011.01607.x |
| F.2741 |
Kasapkara, C.S., Akar, M., Yürük Yıldırım, Z.N., Tüzün, H., Kanar, B., & Ozbek, M.N. (Apr 2014). Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail, 36, 451-2. doi:10.3109/0886022X.2013.865484 |
| F.3476 |
Kölker, S., Garcia-Cazorla, A., Cazorla, A.G., Valayannopoulos, V., Lund, A.M., Burlina, A.B., Sykut-Cegielska, J., Wijburg, F.A., Teles, E.L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J.B., Avram, P., Baumgartner, M.R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E.C., Couce, M.L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H.O., Ortez, C., Peña-Quintana, L., Ramadža, D.P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M.L., Thompson, N., Vara, R., Pinera, I.V., Walter, J.H., Williams, M., & Burgard, P. (Nov 2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J. Inherit. Metab. Dis., 38, 1041-57. doi:10.1007/s10545-015-9839-3 |
| G.80 |
Keiko Ueda and Elaina Jurecki (February 2010). Nutritional Management for PROP. Tufts and BioMarin. |
| F.513 |
Kelts, D.G., Ney, D., Bay, C., Saudubray, J.M., & Nyhan, W.L. (Jan 1985). Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine. Pediatr. Res., 19, 86-91. doi:10.1203/00006450-198501000-00023 |
| G.77 |
Kim McBride (May 2003). Transplantation in PROP. Metab-L Listserv. |
| F.565 |
Kim, T.W., & Hall, S.R. (Jul 2003). Liver transplantation for propionic acidaemia in a 14-month-old male. Paediatr Anaesth, 13(6):554-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12846721 |
| F.534 |
Knerr, I., Weinhold, N., Vockley, J., & Gibson, K.M. (Jan 2012). Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J. Inherit. Metab. Dis., 35, 29-40. doi:10.1007/s10545-010-9269-1 |
| F.3327 |
Komatsuzaki, S., Sakamoto, O., Fuse, N., Uematsu, M., Matsubara, Y., & Ohura, T. (Aug 2012). Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy. Neurology, 79, e63-8. doi:10.1212/WNL.0b013e3182648bb6 |
| F.510 |
Kurczynski, T.W., Hoppel, C.L., Goldblatt, P.J., & Gunning, W.T. (Jul 1989). Metabolic studies of carnitine in a child with propionic acidemia. Pediatr. Res., 26, 63-6. doi:10.1203/00006450-198907000-00018 |
| F.2963 |
Laemmle, A., Balmer, C., Doell, C., Sass, J.O., Häberle, J., & Baumgartner, M.R. (Jul 2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur. J. Pediatr., 173, 971-4. doi:10.1007/s00431-014-2359-6 |
| F.2967 |
Lam, C., Desviat, L.R., Perez-Cerdá, C., Ugarte, M., Barshop, B.A., & Cederbaum, S. (Aug 2011). 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?. Mol. Genet. Metab., 103, 338-40. doi:10.1016/j.ymgme.2011.04.007 |
| F.2969 |
Langendonk, J.G., Roos, J.C., Angus, L., Williams, M., Karstens, F.P., de Klerk, J.B., Maritz, C., Ben-Omran, T., Williamson, C., Lachmann, R.H., & Murphy, E. (May 2012). A series of pregnancies in women with inherited metabolic disease. J. Inherit. Metab. Dis., 35, 419-24. doi:10.1007/s10545-011-9389-2 |
| F.2982 |
Lévesque, S., Lambert, M., Karalis, A., Melancon, S., Russell, L., & Braverman, N. (2012). Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. JIMD Rep, 2, 97-102. doi:10.1007/8904_2011_54 |
| F.3491 |
Lee, P.J. (2006 Apr-Jun). Pregnancy issues in inherited metabolic disorders. J. Inherit. Metab. Dis., 29, 311-6. doi:10.1007/s10545-005-0252-1 |
| F.517 |
Lehnert, W., Schuchmann, L., Urbánek, R., Niederhoff, H., & Böhm, N. (Jul 1978). Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia. Eur. J. Pediatr., 128(3):197-205. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/668727 |
| F.502 |
Lehnert, W., Sperl, W., Suormala, T., & Baumgartner, E.R. (1994). Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur. J. Pediatr., 153(7 Suppl 1):S68-80. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7957390 |
| F.550 |
Levrat, V., Forest, I., Fouilhoux, A., Acquaviva, C., Vianey-Saban, C., & Guffon, N. (Jan 2008). Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?. Orphanet J Rare Dis, 3, 2. doi:10.1186/1750-1172-3-2 |
| F.3463 |
Li, M., Dick, A., Montenovo, M., Horslen, S., & Hansen, R. (Sep 2015). Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. Liver Transpl., 21, 1208-18. doi:10.1002/lt.24173 |
| F.572 |
Libert, R., Van Hoof, F., Thillaye, M., Vincent, M.F., Nassogne, M.C., de Hoffmann, E., & Schanck, A. (May 2000). Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. Clin. Chim. Acta, 295(1-2):87-96. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10767396 |
| F.520 |
Lilliu, F. (Oct 2010). Treatment of organic acidurias and urea cycle disorders. J. Matern. Fetal. Neonatal. Med., 23 Suppl 3, 73-5. doi:10.3109/14767058.2010.509932 |
| F.59 |
Mardach, R., Verity, M.A., & Cederbaum, S.D. (Aug 2005). Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol. Genet. Metab., 85, 286-90. doi:10.1016/j.ymgme.2005.04.004 |
| F.248 |
Martín-Hernández, E., Lee, P.J., Micciche, A., Grunewald, S., & Lachmann, R.H. (Aug 2009). Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors. J. Inherit. Metab. Dis., 32, 523-33. doi:10.1007/s10545-009-1191-12 |
| F.601 |
Massoud, A.F., & Leonard, J.V. (May 1993). Cardiomyopathy in propionic acidaemia. Eur. J. Pediatr., 152(5):441-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8319715 |
| F.603 |
Matsuishi, T., Stumpf, D.A., & Chrislip, K. (Oct 1991). The effect of malate on propionate mitochondrial toxicity. Biochem. Med. Metab. Biol., 46(2):177-84. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1782009 |
| F.3040 |
Mazariegos, G., Shneider, B., Burton, B., Fox, I.J., Hadzic, N., Kishnani, P., Morton, D.H., McIntire, S., Sokol, R.J., Summar, M., White, D., Chavanon, V., & Vockley, J. (Apr 2014). Liver transplantation for pediatric metabolic disease. Mol. Genet. Metab., 111, 418-27. doi:10.1016/j.ymgme.2014.01.006 |
| F.541 |
Mc Guire, P.J., Parikh, A., & Diaz, G.A. (2009 Sep-Oct). Profiling of oxidative stress in patients with inborn errors of metabolism. Mol. Genet. Metab., 98, 173-80. doi:10.1016/j.ymgme.2009.06.007 |
| F.561 |
Meissner, T., Leichsenring, M., & Mayatepek, E. (2004). Odd-numbered long-chain fatty acids in erythrocyte phospholipids as long-term follow-up parameter in propionic acidemia. Clin. Chem. Lab. Med., 42, 1005-8. doi:10.1515/CCLM.2004.203 |
| F.573 |
Mellon, A.F., Deshpande, S.A., Mathers, J.C., & Bartlett, K. (Feb 2000). Effect of oral antibiotics on intestinal production of propionic acid. Arch. Dis. Child., 82(2):169-72. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10648377 |
| F.543 |
Mizuguchi, K., Hoshino, H., Nagasawa, T., & Kubota, M. (Dec 2009). Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure. J. Inherit. Metab. Dis., 32 Suppl 1, S37-40. doi:10.1007/s10545-009-1029-8 |
| F.465 |
Morioka, D., Kasahara, M., Takada, Y., Corrales, J.P., Yoshizawa, A., Sakamoto, S., Taira, K., Yoshitoshi, E.Y., Egawa, H., Shimada, H., & Tanaka, K. (Nov 2005). Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am. J. Transplant., 5, 2754-63. doi:10.1111/j.1600-6143.2005.01084.x |
| F.466 |
Morioka, D., Takada, Y., Kasahara, M., Ito, T., Uryuhara, K., Ogawa, K., Egawa, H., & Tanaka, K. (Sep 2005). Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. Transplantation, 80(5):623-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16177636 |
| F.586 |
Moyano, D., Vilaseca, M.A., Pineda, M., Campistol, J., Vernet, A., Póo, P., Artuch, R., & Sierra, C. (Jul 1997). Tocopherol in inborn errors of intermediary metabolism. Clin. Chim. Acta, 263(2):147-55. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9246419 |
| F.3070 |
Nagao, M., Tanaka, T., Morii, M., Wakai, S., Horikawa, R., & Kasahara, M. (Jan 2013). Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. Mol. Genet. Metab., 108, 25-9. doi:10.1016/j.ymgme.2012.10.022 |
| F.242 |
North, K.N., Korson, M.S., Gopal, Y.R., Rohr, F.J., Brazelton, T.B., Waisbren, S.E., & Warman, M.L. (Jun 1995). Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J. Pediatr., 126(6):916-22. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7539836 |
| F.3088 |
Noval, S., López-Rodríguez, M., González-Sánchez, E., Contreras, I., Royo, A., & Boto-De-los-Bueis, A. (Mar 2013). Late optic neuropathy in propionic acidemia following surgical intervention. J Neuroophthalmol, 33, 90-1. doi:10.1097/WNO.0b013e318273c03b |
| F.241 |
Ogier de Baulny, H. (Feb 2002). Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol, 7, 17-26. doi:10.1053/siny.2001.0084 |
| F.526 |
Ogier de Baulny, H., & Saudubray, J.M. (Feb 2002). Branched-chain organic acidurias. Semin Neonatol, 7, 65-74. doi:10.1053/siny.2001.0087 |
| F.596 |
Ozand, P.T., Rashed, M., Gascon, G.G., Youssef, N.G., Harfi, H., Rahbeeni, Z., al Garawi, S., & al Aqeel, A. (Nov 1994). Unusual presentations of propionic acidemia. Brain Dev., 16 Suppl:46-57. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726381 |
| F.3109 |
Pagon, R.A., Adam, M.P., Ardinger, H.H., Wallace, S.E., Amemiya, A., Bean, L.J.H., Bird, T.D., Ledbetter, N., Mefford, H.C., Smith, R.J.H., & Stephens, K., (1993). GeneReviews(®). Seattle (WA): University of Washington, Seattle. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22593918 |
| F.3117 |
Pena, L., & Burton, B.K. (Jul 2012). Survey of health status and complications among propionic acidemia patients. Am. J. Med. Genet. A, 158A, 1641-6. doi:10.1002/ajmg.a.35387 |
| F.3118 |
Pena, L., Franks, J., Chapman, K.A., Gropman, A., Ah Mew, N., Chakrapani, A., Island, E., MacLeod, E., Matern, D., Smith, B., Stagni, K., Sutton, V.R., Ueda, K., Urv, T., Venditti, C., Enns, G.M., & Summar, M.L. (Jan 2012). Natural history of propionic acidemia. Mol. Genet. Metab., 105, 5-9. doi:10.1016/j.ymgme.2011.09.022 |
| G.67 |
Phyllis Acosta (Fall, 2004). Nutrition and the Organic Acidemias. Abbott. |
| F.255 |
Queen, P.M., Acosta, P.B., & Fernhoff, P.M. (1982). The effects of spacing protein intake on nitrogen balance and plasma amino acids in a child with propionic acidemia. J Am Coll Nutr, 1(3):305-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7185861 |
| F.256 |
Queen, P.M., Fernhoff, P.M., & Acosta, P.B. (Nov 1981). Protein and essential amino acid requirements in a child with propionic acidemia. J Am Diet Assoc, 79(5):562-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7288063 |
| F.599 |
Raby, R.B., Ward, J.C., & Herrod, H.G. (1994). Propionic acidaemia and immunodeficiency. J. Inherit. Metab. Dis., 17(2):250-1. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7526032 |
| F.3381 |
Rafique, M. (2013). Propionic acidaemia: demographic characteristics and complications. J. Pediatr. Endocrinol. Metab., 26, 497-501. doi:10.1515/jpem-2013-0031 |
| F.3382 |
Rafique, M. (Apr 2014). Emerging trends in management of propionic acidemia. Arq Bras Endocrinol Metabol, 58(3):237-42. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24863085 |
| F.246 |
Rela, M., Battula, N., Madanur, M., Mieli-Vergani, G., Dhawan, A., Champion, M., Raiman, J., & Heaton, N. (Sep 2007). Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up. Am. J. Transplant., 7, 2200-3. doi:10.1111/j.1600-6143.2007.01899.x |
| F.521 |
Ribas, G.S., Manfredini, V., de Marco, M.G., Vieira, R.B., Wayhs, C.Y., Vanzin, C.S., Biancini, G.B., Wajner, M., & Vargas, C.R. (Sep 2010). Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro. Mutat. Res., 702, 123-8. doi:10.1016/j.mrgentox.2010.07.008 |
| F.443 |
Romano, S., Valayannopoulos, V., Touati, G., Jais, J.P., Rabier, D., de Keyzer, Y., Bonnet, D., & de Lonlay, P. (Jan 2010). Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J. Pediatr., 156, 128-34. doi:10.1016/j.jpeds.2009.07.002 |
| G.18 |
Ross Metabolic System (2001). Nutrition Support Protocols Ross Metabolic Formula System Abbott Labs 4th edition. Abbott Labs. |
| F.3477 |
Ruzkova, K., Weingarten, T.N., Larson, K.J., Friedhoff, R.J., Gavrilov, D.K., & Sprung, J. (Aug 2015). Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated?. Paediatr Anaesth, 25, 807-17. doi:10.1111/pan.12673 |
| F.2779 |
Ryu, J., Shin, Y.H., Ko, J.S., Gwak, M.S., & Kim, G.S. (Sep 2013). Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. Korean J Anesthesiol, 65, 257-61. doi:10.4097/kjae.2013.65.3.257 |
| G.114 |
S. Yannicelli (personal communication, July 28, 2015). |
| F.3073 |
Salmi, H., Leonard, J.V., & Lapatto, R. (Nov 2012). Patients with organic acidaemias have an altered thiol status. Acta Paediatr., 101, e505-8. doi:10.1111/j.1651-2227.2012.02799.x |
| F.3492 |
Sass, J.O., Hofmann, M., Skladal, D., Mayatepek, E., Schwahn, B., & Sperl, W. (2004 Nov-Dec). Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila), 43, 837-43. doi:10.1177/000992280404300908 |
| F.460 |
Sato, S., Kasahara, M., Fukuda, A., Mizuguchi, K., Nakagawa, S., Muguruma, T., Saito, O., Karaki, C., Nakagawa, A., Yoshii, K., & Horikawa, R. (Sep 2009). Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation. Pediatr Transplant, 13, 790-3. doi:10.1111/j.1399-3046.2008.01029.x |
| F.1387 |
Satoh, T., Narisawa, K., Tazawa, Y., Suzuki, H., Hayasaka, K., Tada, K., & Kawakami, T. (Apr 1983). Dietary therapy in a girl with propionic acidemia: supplement with leucine resulted in catch up growth. Tohoku J. Exp. Med., 139(4):411-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/6868077 |
| F.514 |
Saudubray, J.M., Ogier, H., Charpentier, C., Depondt, E., Coudé, F.X., Munnich, A., Mitchell, G., Rey, F., Rey, J., & Frézal, J. (1984). Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J. Inherit. Metab. Dis., 7 Suppl 1:2-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/6434839 |
| F.495 |
Saudubray, J.M., Touati, G., Delonlay, P., Jouvet, P., Schlenzig, J., Narcy, C., Laurent, J., Rabier, D., Kamoun, P., Jan, D., & Revillon, Y. (Dec 1999). Liver transplantation in propionic acidaemia. Eur. J. Pediatr., 158 Suppl 2:S65-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10603102 |
| F.597 |
Sbaï, D., Narcy, C., Thompson, G.N., Mariotti, A., Poggi, F., Saudubray, J.M., & Bresson, J.L. (Jun 1994). Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism. Am. J. Clin. Nutr., 59(6):1332-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8198058 |
| F.582 |
Schaefer, F., Straube, E., Oh, J., Mehls, O., & Mayatepek, E. (Apr 1999). Dialysis in neonates with inborn errors of metabolism. Nephrol. Dial. Transplant., 14(4):910-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10328469 |
| F.594 |
Schlenzig, J.S., Poggi-Travert, F., Laurent, J., Rabier, D., Jan, D., Wendel, U., Sewell, A.C., Revillon, Y., Kamoun, P., & Saudubray, J.M. (1995). Liver transplantation in two cases of propionic acidaemia. J. Inherit. Metab. Dis., 18(4):448-61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7494403 |
| F.3466 |
Schmeck, A., & Beilin, Y. (Nov 2014). Propionic acidemia in a parturient presenting for induction of labor. A A Case Rep, 3, 118-9. doi:10.1213/XAA.0000000000000077 |
| F.544 |
Scholl-Bürgi, S., Haberlandt, E., Gotwald, T., Albrecht, U., Baumgartner Sigl, S., Rauchenzauner, M., Rostásy, K., & Karall, D. (Apr 2009). Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics, 40, 76-81. doi:10.1055/s-0029-1231065 |
| F.62 |
Scholl-Bürgi, S., Sass, J.O., Heinz-Erian, P., Amann, E., Haberlandt, E., Albrecht, U., Ertl, C., Sigl, S.B., Lagler, F., Rostasy, K., & Karall, D. (May 2010). Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. Amino Acids, 38, 1473-81. doi:10.1007/s00726-009-0356-2 |
| F.536 |
Scholl-Bürgi, S., Sass, J.O., Zschocke, J., & Karall, D. (Jan 2012). Amino acid metabolism in patients with propionic acidaemia. J. Inherit. Metab. Dis., 35, 65-70. doi:10.1007/s10545-010-9245-9 |
| F.523 |
Schwahn, B.C., Pieterse, L., Bisset, W.M., Galloway, P.G., & Robinson, P.H. (Jan 2010). Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur. J. Pediatr., 169, 133-4. doi:10.1007/s00431-009-1036-7 |
| F.3405 |
Siekmeyer, M., Petzold-Quinque, S., Terpe, F., Beblo, S., Gebhardt, R., Schlensog-Schuster, F., Kiess, W., & Siekmeyer, W. (2013). Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia. J. Pediatr. Endocrinol. Metab., 26, 569-74. doi:10.1515/jpem-2012-0148 |
| F.458 |
Soyucen, E., Demirci, E., & Aydin, A. (Apr 2010). Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant. Clin Ther, 32, 710-3. doi:10.1016/j.clinthera.2010.04.004 |
| F.575 |
Sperl, W., Murr, C., Skladal, D., Sass, J.O., Suormala, T., Baumgartner, R., & Wendel, U. (2000 Jan-Feb). Odd-numbered long-chain fatty acids in propionic acidaemia. Eur. J. Pediatr., 159(1-2):54-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10653330 |
| F.503 |
Stanley, C.A., Berry, G.T., Bennett, M.J., Willi, S.M., Treem, W.R., & Hale, D.E. (Jul 1993). Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr. Res., 34, 89-97. doi:10.1203/00006450-199307000-00021 |
| G.75 |
Stephen Kahler (June 2006). Pancreatitis in PROP. Metabol-L Listserv. |
| G.74 |
Stephen Kahler (May2007). Cardiomyopathy and PROP. Metab-L Listserv. |
| G.51 |
Steve Yannicelli (2010). Book: Nutrition Management of Patients with Inherited Metabolic Disorders Chapter 8. Book: Nutrition Management of Patients with Inherited Metabolic Disorders. Phyllis Acosta, editor. |
| F.530 |
Sugiyama, N., Kidouchi, K., Kobayashi, M., & Wada, Y. (Aug 1990). Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Acta Paediatr Jpn, 32(4):410-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2288224 |
| F.484 |
Surtees, R.A., Matthews, E.E., & Leonard, J.V. (1992 Sep-Oct). Neurologic outcome of propionic acidemia. Pediatr. Neurol., 8(5):333-7. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1418175 |
| G.70 |
Susan Winters (October 2002). Carnitine Treatment. Valley Childrens Medical Center. |
| G.65 |
Susan Winters, MD (Fall 2004). Carnitine Therapy in Fatty Acid Oxidation Defects and Organic Acidemias. . |
| F.3403 |
Sutton, V.R., Chapman, K.A., Gropman, A.L., MacLeod, E., Stagni, K., Summar, M.L., Ueda, K., Ah Mew, N., Franks, J., Island, E., Matern, D., Peña, L., Smith, B., Urv, T., Venditti, C., & Chakarapani, A. (Jan 2012). Chronic management and health supervision of individuals with propionic acidemia. Mol. Genet. Metab., 105, 26-33. doi:10.1016/j.ymgme.2011.08.034 |
| F.487 |
Tabanlioğlu, D., Ersoy-Evans, S., & Karaduman, A. (2009 Mar-Apr). Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. Pediatr Dermatol, 26, 150-4. doi:10.1111/j.1525-1470.2008.00803.x |
| F.555 |
Talbot, J.C., Gummerson, N.W., Kluge, W., Shaw, D.L., Groves, C., & Lealman, G.T. (Jul 2006). Osteoporotic femoral fracture in a child with propionic acidaemia presenting as non-accidental injury. Eur. J. Pediatr., 165, 496-7. doi:10.1007/s00431-006-0089-0 |
| F.490 |
Tavil, B., Sivri, H.S., Coskun, T., Gurgey, A., Ozyurek, E., Dursun, A., Tokatli, A., Altay, C., & Gumruk, F. (Oct 2006). Haematological findings in children with inborn errors of metabolism. J. Inherit. Metab. Dis., 29, 607-11. doi:10.1007/s10545-006-0379-8 |
| F.251 |
Thomas, E. (Nov 1994). A study of the response to protein-modified diets for propionic acidemia in twelve patients. Brain Dev., 16 Suppl:58-63. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726382 |
| F.507 |
Thompson, G.N., & Chalmers, R.A. (Apr 1990). Increased urinary metabolite excretion during fasting in disorders of propionate metabolism. Pediatr. Res., 27, 413-6. doi:10.1203/00006450-199004000-00021 |
| F.505 |
Thompson, G.N., Chalmers, R.A., Walter, J.H., Bresson, J.L., Lyonnet, S.L., Reed, P.J., Saudubray, J.M., Leonard, J.V., & Halliday, D. (Aug 1990). The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur. J. Pediatr., 149(11):792-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2226555 |
| F.56 |
Touati, G., Valayannopoulos, V., Mention, K., de Lonlay, P., Jouvet, P., Depondt, E., Assoun, M., Souberbielle, J.C., Rabier, D., Ogier de Baulny, H., & Saudubray, J.M. (2006 Apr-Jun). Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J. Inherit. Metab. Dis., 29, 288-98. doi:10.1007/s10545-006-0351-7 |
| F.548 |
Tuchman, M., Caldovic, L., Daikhin, Y., Horyn, O., Nissim, I., Nissim, I., Korson, M., Burton, B., & Yudkoff, M. (Aug 2008). N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr. Res., 64, 213-7. doi:10.1203/PDR.0b013e318179454b |
| F.60 |
Van Calcar, S.C., Harding, C.O., Davidson, S.R., Barness, L.A., & Wolff, J.A. (Nov 1992). Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. Am. J. Med. Genet., 44, 641-6. doi:10.1002/ajmg.1320440523 |
| F.249 |
van der Meer, S.B., Poggi, F., Spada, M., Bonnefont, J.P., Ogier, H., Hubert, P., Depondt, E., Rapoport, D., Rabier, D., Charpentier, C., Parvy, P., Bardet, J., Kamoun, P., & Saudubray, J.M. (Mar 1996). Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur. J. Pediatr., 155(3):205-10. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8929729 |
| F.439 |
Van Gosen, L. (Jun 2008). Organic acidemias: a methylmalonic and propionic focus. J Pediatr Nurs, 23, 225-33. doi:10.1016/j.pedn.2008.02.004 |
| F.3221 |
Vara, R., Turner, C., Mundy, H., Heaton, N.D., Rela, M., Mieli-Vergani, G., Champion, M., & Hadzic, N. (Jun 2011). Liver transplantation for propionic acidemia in children. Liver Transpl., 17, 661-7. doi:10.1002/lt.22279 |
| F.435 |
Vlaardingerbroek, H., Hornstra, G., de Koning, T.J., Smeitink, J.A., Bakker, H.D., de Klerk, H.B., & Rubio-Gozalbo, M.E. (Jun 2006). Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism. Mol. Genet. Metab., 88, 159-65. doi:10.1016/j.ymgme.2006.01.012 |
| F.252 |
Walter, J.H., Leonard, J.V., Thompson, G.N., & Halliday, D. (Aug 1990). Parenteral nutrition in propionic acidemia and methylmalonic acidemia. J. Pediatr., 117(2 Pt 1):338-9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2116511 |
| F.3252 |
Westrope, C., Morris, K., Burford, D., & Morrison, G. (Sep 2010). Continuous hemofiltration in the control of neonatal hyperammonemia: a 10-year experience. Pediatr. Nephrol., 25, 1725-30. doi:10.1007/s00467-010-1549-3 |
| G.17 |
William Nyhan, Bruce Barshop, Pinar Ozand (2005). Atlas of Metabolic Diseases. University of California San Diego, King Faisal Specials Hospital and Research Center Riyadh Saudi Arabia. |
| F.3264 |
Winter, S., Birek, L., Walker, T., Phalin-Roque, J., Chandler, M.J., Field, C., & Zorn, E. (1999). Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy. Southeast Asian J. Trop. Med. Public Health, 30 Suppl 2:152-3. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11400757 |
| F.486 |
Wolf, B. (Dec 1980). Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency. J. Pediatr., 97(6):964-6. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7441430 |
| F.58 |
Yannicelli, S. (2006 Apr-Jun). Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J. Inherit. Metab. Dis., 29, 281-7. doi:10.1007/s10545-006-0267-2 |
| F.55 |
Yannicelli, S., Acosta, P.B., Velazquez, A., Bock, H.G., Marriage, B., Kurczynski, T.W., Miller, M., Korson, M., Steiner, R.D., Rutledge, L., Bernstein, L., Chinsky, J., Galvin-Parton, P., & Arnold, G.L. (2003 Sep-Oct). Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol. Genet. Metab., 80(1-2):181-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14567967 |
| F.504 |
Yannicelli, S., Hambidge, K.M., & Picciano, M.F. (1992). Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia. J. Inherit. Metab. Dis., 15(2):261-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1527993 |
| F.562 |
Yorifuji, T., Kawai, M., Mamada, M., Kurokawa, K., Egawa, H., Shigematsu, Y., Kohno, Y., Tanaka, K., & Nakahata, T. (2004). Living-donor liver transplantation for propionic acidaemia. J. Inherit. Metab. Dis., 27, 205-10. doi:10.1023/B:BOLI.0000028778.54210.13 |
| F.469 |
Yorifuji, T., Muroi, J., Uematsu, A., Nakahata, T., Egawa, H., & Tanaka, K. (Oct 2000). Living-related liver transplantation for neonatal-onset propionic acidemia. J. Pediatr., 137, 572-4. doi:10.1067/mpd.2000.108391 |
| F.607 |
Yoshino, M., Aramaki, S., Yamashita, F., Sato, K., Inoue, Y., Kuhara, T., & Matsumoto, I. (1991). Erythematous skin lesions and partial deficiency of 3-methylcrotonyl-CoA carboxylase in peripheral lymphocytes in a patient with propionic acidaemia. J. Inherit. Metab. Dis., 14(5):839-40. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1779636 |
| F.3314 |
Zwickler, T., Riderer, A., Haege, G., Hoffmann, G.F., Kölker, S., & Burgard, P. (Jan 2014). Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J. Inherit. Metab. Dis., 37, 31-7. doi:10.1007/s10545-013-9621-3 |
