• Je něco špatně v tomto záznamu ?

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease

C Jakobs, Brink HJ ten, SA Langelaar, T Zee, F Stellaard, M Macek, K Srsnova, S Srsen, WJ Kleijer

. 1991 ; 14 (5) : 653-660.

Jazyk angličtina Země Nizozemsko

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc13029886

Grantová podpora
PL215 MZ0 CEP - Centrální evidence projektů

A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.6-35.4 mumol/mmol creat.; in plasma 0.44 and 0.17-0.81 mumol/L; in cerebrospinal fluid 1.51 and 0.25-2.83 mumol/L; and in amniotic fluid 1.27 and 0.30-2.55 mumol/L. In a patient with Canavan disease, N-acetylaspartic acid concentration was elevated 80-fold in urine and 20-fold in plasma compared to the control means. A subsequent pregnancy of the mother was monitored and the N-acetylaspartic acid concentration in the amniotic fluid was within the control range and a healthy child was born.

000      
00000naa a2200000 a 4500
001      
bmc13029886
003      
CZ-PrNML
005      
20131002161305.0
007      
ta
008      
130917s1991 ne f 000 0|eng||
009      
AR
035    __
$a (PubMed)1779610
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a ne
100    1_
$a Jakobs, C. $u Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
245    10
$a Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease / $c C Jakobs, Brink HJ ten, SA Langelaar, T Zee, F Stellaard, M Macek, K Srsnova, S Srsen, WJ Kleijer
520    9_
$a A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.6-35.4 mumol/mmol creat.; in plasma 0.44 and 0.17-0.81 mumol/L; in cerebrospinal fluid 1.51 and 0.25-2.83 mumol/L; and in amniotic fluid 1.27 and 0.30-2.55 mumol/L. In a patient with Canavan disease, N-acetylaspartic acid concentration was elevated 80-fold in urine and 20-fold in plasma compared to the control means. A subsequent pregnancy of the mother was monitored and the N-acetylaspartic acid concentration in the amniotic fluid was within the control range and a healthy child was born.
590    __
$a bohemika - dle Pubmed
650    12
$a amidohydrolasy $x nedostatek $7 D000581
650    12
$a plodová voda $x chemie $7 D000653
650    12
$a kyselina asparagová $x analogy a deriváty $x analýza $x moč $7 D001224
650    12
$a tělesné tekutiny $x chemie $7 D001826
650    02
$a ženské pohlaví $7 D005260
650    02
$a lidé $7 D006801
650    12
$a indikátorové diluční techniky $7 D007201
650    02
$a kojenec $7 D007223
650    02
$a těhotenství $7 D011247
650    12
$a prenatální diagnóza $7 D011296
650    02
$a referenční hodnoty $7 D012016
655    _2
$a kazuistiky $7 D002363
700    1_
$a ten Brink, H.J.
700    1_
$a Langelaar, S.A.
700    1_
$a Zee, T.
700    1_
$a Stellaard, F.
700    1_
$a Macek, Milan, $d 1961- $7 mzk2006348713 $u Department of Medical Genetics, Charles University, Prague, Czechoslovakia
700    1_
$a Sršňová, Klára, $d 1929- $7 xx0057105 $u Department of Clinical Genetics, Komensky University, Martin, Czechoslovakia
700    1_
$a Sršeň, Štefan, $d 1923-2006 $7 nlk20000087696 $u Department of Clinical Genetics, Komensky University, Martin, Czechoslovakia
700    1_
$a Kleijer, W.J.
773    0_
$t Journal of Inherited Metabolic Disease $x 0141-8955 $g Roč. 14, č. 5 (1991), s. 653-660 $p J Inherit Metab Dis $w MED00002747
910    __
$a ABA008 $b B 1571 $y 3 $z 0
990    __
$a 20130917132443 $b ABA008
991    __
$a 20131002161822 $b ABA008
999    __
$a ok $b bmc $g 993914 $s 828326
BAS    __
$a 3
BMC    __
$x MED00002747 $i 0141-8955 $a 1991 $b 14 $c 5 $d 653-660 $m Journal of inherited metabolic disease $n J Inherit Metab Dis
GRA    __
$a PL215 $p MZ0
LZP    __
$a NLK 2013-09/lpbo

Najít záznam

Citační ukazatele

Možnosti archivace