Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, et al. Anaplerotic therapy in propionic acidemia. Mol Genet Metab. 2017 Sep. 122 (1-2):51-59. [QxMD MEDLINE Link].
Hsia YE, Scully KJ, Rosenberg LE. Defective propionate carboxylation in ketotic hyperglycinaemia. Lancet. 1969 Apr 12. 1(7598):757-8. [QxMD MEDLINE Link].
Morrow G 3rd, Barness LA, Auerbach VH, et al. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr. 1969 May. 74(5):680-90. [QxMD MEDLINE Link].
Hsia YE, Scully KJ, Rosenberg LE. Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia.". J Clin Invest. 1971 Jan. 50(1):127-30. [QxMD MEDLINE Link]. [Full Text].
Wongkittichote P, Ah Mew N, Chapman KA. Propionyl-CoA carboxylase - A review. Mol Genet Metab. 2017 Dec. 122 (4):145-152. [QxMD MEDLINE Link]. [Full Text].
Alberola TM, Bautista-Llácer R, Vendrell X, García-Mengual E, Pardo M, Vila M, et al. Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. J Assist Reprod Genet. 2011 Mar. 28(3):211-6. [QxMD MEDLINE Link]. [Full Text].
Pérez B, Angaroni C, Sánchez-Alcudia R, Merinero B, Pérez-Cerdá C, Specola N, et al. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. J Inherit Metab Dis. 2010 Oct. 33:S307-14. [QxMD MEDLINE Link].
Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr. 2016 Dec. 28 (6):682-693. [QxMD MEDLINE Link]. [Full Text].
Sutton VR, Chapman KA, Gropman AL, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan. 105(1):26-33. [QxMD MEDLINE Link].
Lee TM, Addonizio LJ, Barshop BA, et al. Unusual presentation of propionic academia as isolated cardiomyopathy. J Inherit Metab Dis. Dec/2009. 32 suppl:S97-101. [QxMD MEDLINE Link].
Kakavand B, Schroeder VA, Di Sessa TG. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol. Jan-Feb/2006. 27:160-1. [QxMD MEDLINE Link].
Romano S, Valayannopoulos V, Touati G, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr. Jan/2010. 156:128-34. [QxMD MEDLINE Link].
Bruggink JL, van Spronsen FJ, Wijnberg-Williams BJ, Bos AF. Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood. Early Hum Dev. 2009 Jul. 85(7):461-5. [QxMD MEDLINE Link].
Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009 May. 147(5):929-33. [QxMD MEDLINE Link].
Arias C, Raimann E, Peredo P, et al. Propionic acidemia and optic neuropathy: a report of two cases. JIMD Rep. 2014. 12:1-4. [QxMD MEDLINE Link]. [Full Text].
Kraus JP, Spector E, Venezia S, et al. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. Jan/2012. 35:51-63. [QxMD MEDLINE Link].
Desviat LR, Sanchez-Alcudia R, Perez B, et al. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Mol Genet Metab. Apr/2009. 96:171-6. [QxMD MEDLINE Link].
Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003 Sep. 110(9):1850-4. [QxMD MEDLINE Link].
Abacan M, Boneh A. Use of carglumic acid in the treatment of hyperammonemia during metabolic decompensation of patients with propionic acidemia. Mol Genet Metab. Aug/2013. 109:397-401. [QxMD MEDLINE Link].
[Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Sep. 114(3):889-94. [QxMD MEDLINE Link].
Baumgartner D, Scholl-Burgi S, Sass JO, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr. 2007 Feb. 150(2):192-7. [QxMD MEDLINE Link].
Carrillo-Carrasco N, Venditti C. Propionic acidemia[Internet]. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Gene Reviews. Seattle, Wash: University Seattle; 2012. 1993-2013.
Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003 Aug. 127(8):e325-8. [QxMD MEDLINE Link].
Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab. 2006 Jun. 88(2):123-30. [QxMD MEDLINE Link].
Gravel RA, Lam KF, Scully KJ, Hsia Y. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet. 1977 Jul. 29(4):378-88. [QxMD MEDLINE Link].
Lamhonwah AM, Gravel RA. Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. Am J Hum Genet. 1987 Dec. 41(6):1124-31. [QxMD MEDLINE Link].
Meyburg J, Hoffmann GF. Liver transplantation for inborn errors of metabolism. Transplantation. 2005 Sep 27. 80(1 Suppl):S135-7. [QxMD MEDLINE Link].
Nyhan WL, Bordern M, Childs B. Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine. Pediatrics. 1961 Apr. 27:539-50. [QxMD MEDLINE Link].
Pena L, Franks J, Chapman KA, et al. Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan. 105(1):5-9. [QxMD MEDLINE Link].
Perez-Cerda C, Perez B, Merinero B, et al. Prenatal diagnosis of propionic acidemia. Prenat Diagn. 2004 Dec 15. 24(12):962-4. [QxMD MEDLINE Link].
Saunders M, Sweetman L, Robinson B, et al. Biotin-response organic aciduria. Multiple carboxylase defects and complementation studies with propionic acidemia in cultured fibroblasts. J Clin Invest. 1979 Dec. 64(6):1695-702. [QxMD MEDLINE Link]. [Full Text].
Wolf B, Willard HF, Rosenberg LE. Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts. Am J Hum Genet. 1980. 32(1):16-25. [QxMD MEDLINE Link].