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Case Reports
. 1996;19(2):181-4.
doi: 10.1007/BF01799424.

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

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Case Reports

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

M Brivet et al. J Inherit Metab Dis. 1996.
No abstract available

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References

    1. J Clin Invest. 1993 Mar;91(3):1247-52 - PubMed
    1. J Clin Invest. 1989 Mar;83(3):927-36 - PubMed
    1. J Inherit Metab Dis. 1990;13(3):321-4 - PubMed
    1. J Pediatr. 1993 Jun;122(6):917-9 - PubMed
    1. J Clin Invest. 1991 Mar;87(3):859-64 - PubMed

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