Breath gas analysis in patients suffering from propionic acidaemia

Breath Analysis for Clinical Diagnosis and Therapeutic Monitoring

Volumn , Issue , 2005, Pages 401-407

  Janovsky, U ^a   Scholl Burgi S ^a   Karall, D ^a   Beauchamp, J ^b   Hansel, A ^b   Poupart, G ^a   Schmid, A ^a   Amann, A ^a,c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84967394947     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1142/9789812701954_0028     Document Type: Chapter

References (14)

1. Lamhonwah AM, Barankiewicz TJ, Willard HF, Mahuran DJ, Quan F, Gravel RA. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. Proc Natl Acad Sei USA 1986; 83: 4864-4868.
2. Kennerknecht I, Suormala T, Barbi G, Baumgartner ER. The gene coding for the alpha-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32. Hum Genet 1990; 86: 238-240.
3. Kraus JP, Williamson CL, Firgaira FA, Yang-Feng TL, Munke M, Francke U, Rosenberg LE. Cloning and screening with nanogram amounts of immunop-urified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sei USA 1986; 83: 2047-2051.
4. Leonard JV. Stable isotope studies in propionic and methylmalonic acidaemia. Eur J Pediatr 1997; 156 Suppl 1: S67-69.
5. Menkes JH. Idiopathic hyperglycinemia: isolation and identification of three previously undescribed urinary ketones. J Pediatr 1966; 69: 413-421.
6. Lehnert W, Schuchmann L, Urbanek R, Niederhoff H, Böhm N. Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia. Eur J Pediatr 1978; 128: 197-205.
7. Lehnert W, Sperl W, Suormala T, Baumgartner ER. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 1994; 153: S68-80.
8. Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL. Propionic acidemia: a clinical update. J Pediatr 1981; 99: 835-846.
9. Sperl W, Lehnert W. Metabolic disorders of branched-chain amino acids: most common forms of organic aciduria in the neonatal period [in German]. Klin Pädiatr 1990; 202: 334-339.
10. Kromeyer-Hausschield K, Wabitsch M, Kunze D, Hebebrand J. Perzentile für den Body-mass-index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben. Monatsschrift Kinderheilkunde 2001; 149: 807.
11. Doderer, H. Die Merowinger oder Die totale Familie. Munich: Biederstein, 1962: p. 142
12. Mancia F, Evans PR. Conformational changes on substrate binding to methylmalonyl CoA mutase and new insights into the free radical mechanism. Structure 1998; 15: 711-720.
13. Mancia F, Evans PR. On the mechanism of action of methylmalonyl-CoA mutase. Change of the steric course on isotope substitution. European Journal of Biochemistry 1986; 156: 545-554.
14. McLafferty FW. Wiley Registry of Mass Spectral Data, 7th Edition. New York: John Wiley and Sons, 2000.