Author:
Distelmaier Felix,Vogel Markus,Spiekerkötter Ute,Gempel Klaus,Klee Dirk,Braunstein Stefan,Groneck Heinz-Peter,Mayatepek Ertan,Wendel Udo,Schwahn Bernd
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Reference19 articles.
1. Frerman FE, Goodman SI (2001) Defects of electron transfer flavo-protein and electron transfer flavoprotein-ubiquinone oxidoreductase:glutaric acidemia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw Hill, New York, pp 2357–2365
2. Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L (1999) Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68:424–440
3. McGarry JD, Foster DW (1980) Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 49:395–420
4. Hug G, Soukup S, Berry H, Bove K (1989) Carnitine palmityl transferase (CPT): deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine. Pediatr Res 25:115A
5. North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127:414–420
Cited by
12 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献