Pediatr. pro Praxi, 2004; 1: 46-47

Jaká je vaše diagnóza? - odpovědi

Published: December 31, 2004  Show citation

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Jaká je vaše diagnóza? - odpovědi. Pediatr. praxi. 2004;7(1):46-47.

1. otázka:

Lze určit strukturu/tkáň, z níž je uvolňována vysoká aktivita sérové CK?

2. otázka:

Pokud ano, jaký další diagnostický postup navrhujete ke stanovení konečné diagnózy?

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    References

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    2. Doležel Z, Kopečná L, Jičínská H. Jaká je vaše diagnóza? Čs Pediat, 1998; s. 450-451.
    3. Dubowitz V. Report of the 75th ENMC international workshop: treatment of muscular dystrophy. Neuromuscular Disord, 2000; 10: 313-320. Go to original source... Go to PubMed...
    4. Emery AEH. The muscular dystrophies. Lancet, 2002; 359: 687-695. Go to original source... Go to PubMed...
    5. Sršeň S, Sršňová K. Základy klinickej genetiky a jej molekulárna podstata. 3. vydání. Osveta, Martin, 2000, 409s.
    6. Todorova A, Constantinova D, Kremensky I. Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the dystrophin gene: The possible role of repeated motifs in mutation generation. Am J Med Genet, 2003; 120A: 5-7. Go to original source... Go to PubMed...
    7. Torrente YD, Angelo MG, Li Z, et al. Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency. Hum Mol Genet, 2000; 9: 1843-1852. Go to original source... Go to PubMed...
    8. www.enmc.org and enmc.spc.ox.ac.uk.

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