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Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Levrat V, Forest I, Fouilhoux A, Acquaviva C, Vianey-Saban C, Guffon N.

Orphanet J Rare Dis. 2008 Jan 30;3:2.PMID: 18234091 [PubMed - indexed for MEDLINE]Related articlesFree article

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria.

Gebhardt B, Vlaho S, Fischer D, Sewell A, Böhles H.

Mol Genet Metab. 2003 Aug;79(4):303-4.PMID: 12948747 [PubMed - indexed for MEDLINE]Related articles

Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia.

Stewart PM, Walser M.

J Clin Invest. 1980 Sep;66(3):484-92.PMID: 7400325 [PubMed - indexed for MEDLINE]Related articlesFree article

N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia.

Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H.

J Inherit Metab Dis. 2005;28(2):241-4.PMID: 15877213 [PubMed - indexed for MEDLINE]Related articles

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. Review.PMID: 16763906 [PubMed - indexed for MEDLINE]Related articles

Branched-chain organic acidurias.

Ogier de Baulny H, Saudubray JM.

Semin Neonatol. 2002 Feb;7(1):65-74. Review.PMID: 12069539 [PubMed - indexed for MEDLINE]Related articles

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, Assoun M, Souberbielle JC, Rabier D, Ogier de Baulny H, Saudubray JM.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98.PMID: 16763890 [PubMed - indexed for MEDLINE]Related articles

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N.

Mol Genet Metab. 2006 Jun;88(2):123-30. Epub 2006 Jan 10.PMID: 16406646 [PubMed - indexed for MEDLINE]Related articles

Methylmalonic and propionic aciduria.

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12. Review.PMID: 16602092 [PubMed - indexed for MEDLINE]Related articles

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

Di Donato S, Rimoldi M, Garavaglia B, Uziel G.

Clin Chim Acta. 1984 May 16;139(1):13-21.PMID: 6723070 [PubMed - indexed for MEDLINE]Related articles

Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.

Saudubray JM, Coudé FX, Ogier H, Cathelineau L, Briand P, Charpentier C.

Adv Exp Med Biol. 1982;153:135-40. No abstract available. PMID: 7164893 [PubMed - indexed for MEDLINE]Related articles

On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias.

Wendel U, Eissler A, Sperl W, Schadewaldt P.

J Inherit Metab Dis. 1995;18(5):584-91.PMID: 8598639 [PubMed - indexed for MEDLINE]Related articles

Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia.

Chen CY, Tsai TC, Lee WJ, Chen HC.

Ren Fail. 2007;29(6):751-4.PMID: 17763173 [PubMed - indexed for MEDLINE]Related articles

[Carnitine in the treatment of methylmalonic aciduria (MMA)]

Penn D, Schmidt H, Otten A, Schmidt-Sommerfeld E.

Monatsschr Kinderheilkd. 1986 Oct;134(10):758-61. German. PMID: 2879226 [PubMed - indexed for MEDLINE]Related articles

Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies.

Corazza F, Blum D, Clercx A, Mardens Y, Fondu P.

Biol Neonate. 1996;70(5):304-10.PMID: 8955917 [PubMed - indexed for MEDLINE]Related articles

Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.

Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM, Millington DS.

Arch Dis Child. 1983 Nov;58(11):916-20.PMID: 6651329 [PubMed - indexed for MEDLINE]Related articlesFree article

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Schwab MA, Sauer SW, Okun JG, Nijtmans LG, Rodenburg RJ, van den Heuvel LP, Dröse S, Brandt U, Hoffmann GF, Ter Laak H, Kölker S, Smeitink JA.

Biochem J. 2006 Aug 15;398(1):107-12.PMID: 16686602 [PubMed - indexed for MEDLINE]Related articlesFree article

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.

De Raeve L, De Meirleir L, Ramet J, Vandenplas Y, Gerlo E.

J Pediatr. 1994 Mar;124(3):416-20.PMID: 8120711 [PubMed - indexed for MEDLINE]Related articles

Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.

de Almeida IT, Duran M, Silva MF, Portela R, Cabral A, Tasso T, Eusébio F, Silveira C.

J Inherit Metab Dis. 1991;14(2):259-62. No abstract available. PMID: 1886409 [PubMed - indexed for MEDLINE]Related articles

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.

Bachmann C, Colombo JP.

Eur J Pediatr. 1980 Aug;134(2):109-13.PMID: 7439194 [PubMed - indexed for MEDLINE]Related articles