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Diagnosi prenatale ed ecografia in gravidanza - Age.Na.S.

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Capitolo 9 • Screen<strong>in</strong>g delle malattie metaboliche 199<br />

21. Jakobs C, Dorland L, Wikker<strong>in</strong>k B, et al. Stable isotope<br />

dilution analysis of succ<strong>in</strong>ylacetone us<strong>in</strong>g electron capture<br />

negative ion mass fragmentography: an accurate approach<br />

to the pre- and neonatal diagnosis of her<strong>ed</strong>itary tyros<strong>in</strong>emia<br />

type I. Cl<strong>in</strong> Chim Acta. 1988 Feb 15;171(2-3):223-31.<br />

22. Jakobs C, Stellaard F, Kvitt<strong>in</strong>gen EA, et al. First-trimester<br />

prenatal diagnosis of tyros<strong>in</strong>emia type I by amniotic<br />

fluid succ<strong>in</strong>ylacetone determ<strong>in</strong>ation. Prenat Diagn. 1990<br />

Feb;10(2):133-4.<br />

23. Kamoun PP, Chadefaux B. Eleventh week amniocentesis<br />

for prenatal diagnosis of some metabolic diseases. Prenat<br />

Diagn. 1991 Sep;11(9):691-6.<br />

24. Kelley RI. Prenatal detection of Canavan disease by<br />

measurement of N-acetyl-L-aspartate <strong>in</strong> amniotic fluid. J<br />

Inherit Metab Dis. 1993;16(5):918-9.<br />

25. Kleijer WJ, Garritsen VH, L<strong>in</strong>nebank M, et al. Cl<strong>in</strong>ical,<br />

enzymatic, and molecular genetic characterization of a<br />

biochemical variant type of arg<strong>in</strong><strong>in</strong>osucc<strong>in</strong>ic aciduria:<br />

prenatal and postnatal diagnosis <strong>in</strong> five unrelat<strong>ed</strong> families.<br />

J Inherit Metab Dis. 2002 Sep;25(5):399-410.<br />

26. Kumps A, Vamos E, Mardens Y, et al. Assessment of an<br />

electron-impact GC-MS method for organic acids and<br />

glyc<strong>in</strong>e conjugates <strong>in</strong> amniotic fluid. J Inherit Metab Dis.<br />

2004;27(5):567-79.<br />

27. Mandell R, Packman S, Laframboise R, et al. Use<br />

of amniotic fluid am<strong>in</strong>o acids <strong>in</strong> prenatal test<strong>in</strong>g for<br />

arg<strong>in</strong><strong>in</strong>osucc<strong>in</strong>ic aciduria and citrull<strong>in</strong>aemia. Prenat Diagn.<br />

1996 May;16(5):419-24.<br />

28. Mer<strong>in</strong>ero B, Pérez-Cerdá C, Garcia MJ, et al. Reliability<br />

of biochemical parameters us<strong>ed</strong> <strong>in</strong> prenatal diagnosis of

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