Pediatr. praxi. 2007;8(4):245-246

Jaká je Vaše diagnóza? odpovědi

MUDr. Luděk Ryba
Dětské oddělení, Nemocnice Ústí nad Orlicí

Jaká je Vaše diagnóza?

Jaký by byl Váš postup?

Přesnou odpověď na příčinu fatálního průběhu přinesly až výsledky z laboratoře Ústavu dědičných metabolických poruch VFN a 1. LF UK v Praze. Potvrdily naše počáteční podezření na metabo­lické onemocnění (jako nejpravděpodobnější jsme zvažovali poruchu beta-oxidace mastných kyselin), které se projevuje progredující kardiomyopatií...

Published: September 1, 2007  Show citation

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Ryba L. Jaká je Vaše diagnóza? odpovědi. Pediatr. praxi. 2007;8(4):245-246.
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    References

    1. den Boer Margarethe EJ, Ronald JA, Wanders et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients, PEDIATRICS 2002; 109(1): 99-104. Go to original source... Go to PubMed...
    2. Gillingham, Melanie B, Purnell, Jonathan Q, Jordan, Julia et al. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Molecular Genetics & Metabolism, 2007; 90(1): 64-69. Go to original source... Go to PubMed...
    3. Mütze S, Ahillen I, Rudnik-Schoeneborn S et al. Neither maternal nor fetal mutation (E474Q) in the ?-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. Journal of Perinatal Medicine; 2007; 35(1): 76-78. Go to original source... Go to PubMed...
    4. Sander J; Sander S; Steuerwald U et al. Neonatal screening for defects of the mitochondrial trifunctional protein. By: Molecular Genetics & Metabolism, 2005; 85(2): 108-114. Go to original source... Go to PubMed...
    5. Wanders RJA, IJlst L, van Gennip AH, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid ß-oxidation. J Inherit Metab Dis. 1990; 13: 311-314. Go to original source... Go to PubMed...
    6. Wanders RJA, Vreken P, den Boer MEJ, et al. Disorders of mitochondrial fatty acyl-CoA ß-oxidation. J. Inherit Metab Dis. 1999; 22: 442-487. Go to original source... Go to PubMed...
    7. Zeman J et al. Poruchy MCAD a LCHAD, Čes.-slov. Pediatr. 1998; 5: 251-255.

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