Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents-Reference-Cited by-同舟云学术

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

Published:1996-03 Issue:2 Volume:19 Page:181-184
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Brivet M.,Slama A.,Millington D. S.,Roe C. R.,Demaugre F.,Legrand A.,Boutron A.,Poggi F.,Saudubray J. M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799424

Reference7 articles.

1. Corr PB, Creer MH, Yamada KA, et al (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.J Clin Invest 83: 927–936.

2. Demaugre F, Bonnefont JP, Colonna M, et al (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.J Clin Invest 87: 859–864.

3. Elpeleg O, Adina J, Branski D, et al (1993) Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.J Pediatr 122: 917–919.

4. Millington DS, Kodo N, Norwood DL, et al (1991) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.J Inher Metab Dis 13: 321–324.

5. Pande SV, Brivet M, Slama A, et al (1993) Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block. Translocase assay in permeabilized fibroblasts.J Clin Invest 91: 1247–1252.

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