Atlas of Inherited Metabolic Diseases 3E by Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

By Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

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Jansen R, Ledley FD. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by PCR cDNA cloning. Am J Hum Genet 1990; 47: 808. Ledley FD, Crane AM, Lumetta M. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am J Hum Genet 1990; 47: 808. Wilkemeyer MG, Crane AM, Ledley FD. Differential diagnosis  of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts. J Clin Invest 1991; 87: 915.

Eur J Pediatr 1990; 149: 792. 109. Walter JH, Thompson GN, Leonard JV et al. Contribution of amino acid catabolism to propionate production in methylmalonic acidemia. Lancet 1989; 1: 1298. 110. Snyderman S, Sansaricq C, Norton P et al. The use of neomycin in the treatment of methylmalonic acidemia. Pediatrics 1972; 50: 925. 111. Thompson GN, Chalmers RA. Increased urinary metabolite excretion during fasting in disorders of propionate metabolism. Pediatr Res 1990; 27: 413. 112. Saudubray JM, Ogier H, Charpentier C et al.

114. Wolff JA, Carroll JE, Thuy LP et al. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet 1986; 1: 289. 32 Methylmalonic acidemia 115. Marsden D, Barshop BA, Capistrano-Estrada S et al. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol 1994; 52: 145. 116. Van’t Hoff WG, McKiernan PJ, Surtees RAH, Leonard JV. Liver transplantation for methylmalonic acidemia. Eur J Pediatr 1999; 158: S70.

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