Search results
SYS r029086 LBL ^^^^^naa^^22^^^^^^^^450^ 005 20130617160934.0 100 $a 20041005a2004 m y0sloc0103 ba 101 0-
$a eng 102 $a SK 200 1-
$a Population analysis in east Asia of twelve SLC25A13 mutations found in Japanese patients with citrin deficiency (CTLN2 and NICCD) $f Keiko Kobayashi ... [et al.] 463 -1
$1 001 sllk_un_cat*sg000135_2004_004_009 $1 011 $a 0006-9248 $1 200 1 $a Bratislavské lekárske listy $d Bratislava medical journal $e international journal for biomedical sciences and clinical medicine $v Vol. 105, no. 9 (2004), s. 328 $1 210 $a Bratislava $c Slovak Academic Press 541 1-
$a Populačná analýza vo východnej Ázii u dvanástich SLC25A13 mutácii u japonských pacientov s citrínovým deficitom (CTLN2 a NICCD) 606 1-
$a citrulinémia $x enzymológia $x genetika $2 M $3 sllk_un_auth*d020159 $9 . 606 1-
$a mutácia $x genetika $x imunológia $2 mesh $3 sllk_un_auth*d009154 $9 . 606 1-
$a receptory glutamátové $x analýza $x genetika $x metabolizmus $2 mesh $3 sllk_un_auth*d017470 $9 . 606 2-
$a choroby genetické, vrodené $2 mesh $3 sllk_un_auth*d030342 $9 . 606 2-
$3 sllk_un_auth*d001669 $a javy biochemické $9 . $2 mesh 606 2-
$a epilepsia $x diagnostika $x genetika $2 mesh $3 sllk_un_auth*d004827 $9 . 606 2-
$3 sllk_un_auth*d022124 $a hyperamonémia $x diagnostika $x genetika $9 . $2 mesh 608 $3 sllk_un_auth*d016416 $a abstrakt z kongresu $2 mesh 675 $a 577.15:575.15:616.8:061.3 $v 2. $z slo 701 -1
$a Kobayashi $b Keiko $3 sllk_un_auth*p0037792 $4 070 $p Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan 701 -1
$a Lu $b Yao Bang $3 sllk_un_auth*p0037793 $4 070 $p Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan 701 -1
$a Ushikai $b Miharu $3 sllk_un_auth*p0037794 $4 070 $p Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan 701 -1
$a Li $b Meng Xian $3 sllk_un_auth*p0037795 $4 070 $p Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan 701 -1
$a Hsiao $b Kwang-Jen $3 sllk_un_auth*p0037770 $4 070 $p Institute of Genetics, National Yang-Ming University and Taipei Veterans General Hospital, Taipei, Taiwan 701 -1
$a Yang $b Yanling $3 sllk_un_auth*p0037796 $4 070 $p Department of Pediatrics, The First Hospital of Peking University, Beijing, China 701 -1
$a Lee $b Dong-Hwan $3 sllk_un_auth*p0037797 $4 070 $p Department of Pediatrics, Soon Chun Hyang University Hospital, Seoul, Korea 701 -1
$a Saheki $b Takeyori $3 sllk_un_auth*p0037798 $4 070 $p Institute of Genetics, National Yang-Ming University and Taipei Veterans General Hospital, Taipei, Taiwan 711 12
$3 sllk_un_auth*k0002613 $a Ázijsko-európsky kongres o dedičných metabolických poruchách $b AEWIEM $d 9. $e Stará Lesná, Slovensko $f 2004 801 -0
$a SK $b BA006 $c 20041005 $g AACR2 SYS r029164 LBL ^^^^^naa^^22^^^^^^^^450^ 005 20130617160048.0 100 $a 20041007a2004 m y0sloc0103 ba 101 0-
$a eng 102 $a SK 200 1-
$a Quantification of globotriaosylceramide in human plasma and urine by electrospray ionization tandem mass spectrometry for therapeutic monitoring of Fabry disease $f Hye-Ran Yoon ... [et al.] 463 -1
$1 001 sllk_un_cat*sg000135_2004_004_009 $1 011 $a 0006-9248 $1 200 1 $a Bratislavské lekárske listy $d Bratislava medical journal $e international journal for biomedical sciences and clinical medicine $v Vol. 105, no. 9 (2004), s. 339 $1 210 $a Bratislava $c Slovak Academic Press 541 1-
$a Kvantifikácia globotriaozylceramidu v ľudskej plazme a moči elektrosprejovou ionizáciou spolu s hmotnostnou spektrometriou na terapeutické monitorovanie Fabryho choroby 606 1-
$a globozidy $x analýza $x použitie diagnostické $2 mesh $3 sllk_un_auth*d005915 $9 . 606 1-
$a ceramidy $x analýza $x použitie diagnostické $2 mesh $3 sllk_un_auth*d002518 $9 . 606 1-
$a Fabryho choroba $x diagnostika $x farmakoterapia $2 mesh $3 sllk_un_auth*d000795 $9 . 606 2-
$a galaktozidázy $x analýza $x použitie diagnostické $2 mesh $3 sllk_un_auth*d005696 $9 . 606 2-
$a aberácie chromozómové $2 mesh $3 sllk_un_auth*d002869 $9 . 608 $3 sllk_un_auth*d016416 $a abstrakt z kongresu $2 mesh 675 $a 616-008.6-056.7:061.3 $v 2. $z slo 701 -1
$a Yoon $b Hye-Ran $3 sllk_un_auth*p0037857 $4 070 $p Department of Biochemical Genetics, Seoul Medical Science Institute, Seoul, Korea 701 -1
$a Lee $b Kyungryul $3 sllk_un_auth*p0037859 $4 070 $p Department of Biochemical Genetics, Seoul Medical Science Institute, Seoul, Korea 701 -1
$a Cho $b Kyunghee $3 sllk_un_auth*p0037860 $4 070 $p Department of Biochemical Genetics, Seoul Medical Science Institute, Seoul, Korea 701 -1
$a Kang $b Seungwoo $3 sllk_un_auth*p0037861 $4 070 $p Department of Biochemical Genetics, Seoul Medical Science Institute, Seoul, Korea 701 -1
$a Lee $b Dong-Hwan $3 sllk_un_auth*p0037797 $4 070 $p Department of Pediatrics, Soon Chun Hyang University Medical School Hospital, Seoul, Korea 701 -1
$a Yoo $b Han-Wook $3 sllk_un_auth*p0037853 $4 070 $p Department of Pediatrics, Ulsan University Medical School Hospital, Seoul, Korea 711 12
$3 sllk_un_auth*k0002613 $a Ázijsko-európsky kongres o dedičných metabolických poruchách $b AEWIEM $d 9. $e Stará Lesná, Slovensko $f 2004 801 -0
$a SK $b BA006 $c 20041007 $g AACR2 SYS r029088 LBL ^^^^^naa^^22^^^^^^^^450^ 005 20130617160617.9 100 $a 20041005a2004 m y0sloc0103 ba 101 0-
$a eng 102 $a SK 200 1-
$a Tetrahydrobiopterine (BH4) responsive phenylketonuria $f Dong-Hwan Lee, Kim YS 463 -1
$1 001 sllk_un_cat*sg000135_2004_004_009 $1 011 $a 0006-9248 $1 200 1 $a Bratislavské lekárske listy $d Bratislava medical journal $e international journal for biomedical sciences and clinical medicine $v Vol. 105, no. 9 (2004), s. 328 $1 210 $a Bratislava $c Slovak Academic Press 541 1-
$a Fenylketonúria responzivná tetrahydrobiopterínom (BH4) 606 1-
$3 sllk_un_auth*d001708 $a biopteríny $x analógy a deriváty $x analýza $x deficit $9 . $2 mesh 606 1-
$a fenylketonúrie $x diagnostika $x etiológia $x genetika $2 mesh $3 sllk_un_auth*d010661 $9 . 606 1-
$a fenylalanínhydroxyláza $x deficit $x použitie diagnostické $2 mesh $3 sllk_un_auth*d010651 $9 . 606 2-
$3 sllk_un_auth*d004032 $a strava, stravovanie a diéty $9 . $2 mesh 606 2-
$a skríning novorodenecký $x metódy $2 mesh $3 sllk_un_auth*d015997 $9 . 606 2-
$a poruchy metabolizmu, vrodené $2 mesh $3 sllk_un_auth*d008661 $9 . 606 2-
$a novorodenec $x metabolizmus $2 mesh $3 sllk_un_auth*d007231 $9 . 608 $3 sllk_un_auth*d016416 $a abstrakt z kongresu $2 mesh 675 $a 616-056.7:616-053.31:061.3 $v 2. $z slo 700 -1
$a Lee $b Dong-Hwan $3 sllk_un_auth*p0037797 $4 070 $p Department of Pediatrics, Soon Chun Hyang University Hospital, Seoul, Korea 701 -1
$a YS $b Kim $3 sllk_un_auth*p0037799 $4 070 $p Department of Pediatrics, Soon Chun Hyang University Hospital, Seoul, Korea 711 12
$3 sllk_un_auth*k0002613 $a Ázijsko-európsky kongres o dedičných metabolických poruchách $b AEWIEM $d 9. $e Stará Lesná, Slovensko $f 2004 801 -0
$a SK $b BA006 $c 20041005 $g AACR2