Number of the records: 1
Population analysis in east Asia of twelve SLC25A13 mutations found in Japanese patients with citrin deficiency (CTLN2 and NICCD)
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$a eng 044 $a xo $c SK 080 $a 577.15:575.15:616.8:061.3 $2 2. 242 10
$a Populačná analýza vo východnej Ázii u dvanástich SLC25A13 mutácii u japonských pacientov s citrínovým deficitom (CTLN2 a NICCD) 245 10
$a Population analysis in east Asia of twelve SLC25A13 mutations found in Japanese patients with citrin deficiency (CTLN2 and NICCD) / $c Keiko Kobayashi ... [et al.] 650 12
$7 sllk_us_auth*d020159 $a citrulinémia $x enzymológia $x genetika $2 M $9 . 650 12
$7 sllk_us_auth*d009154 $a mutácia $x genetika $x imunológia $2 mesh $9 . 650 12
$7 sllk_us_auth*d017470 $a receptory glutamátové $x analýza $x genetika $x metabolizmus $2 mesh $9 . 650 22
$7 sllk_us_auth*d030342 $a choroby genetické, vrodené $2 mesh $9 . 650 22
$7 sllk_us_auth*d001669 $a javy biochemické $9 . $2 mesh 650 22
$7 sllk_us_auth*d004827 $a epilepsia $x diagnostika $x genetika $2 mesh $9 . 650 22
$7 sllk_us_auth*d022124 $a hyperamonémia $x diagnostika $x genetika $9 . $2 mesh 655 -7
$7 sllk_us_auth*d016416 $a abstrakt z kongresu $2 mesh 700 1-
$7 sllk_us_auth*p0037792 $a Kobayashi, Keiko $u Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan $4 aut 700 1-
$7 sllk_us_auth*p0037793 $a Lu, Yao Bang $u Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan $4 aut 700 1-
$7 sllk_us_auth*p0037794 $a Ushikai, Miharu $u Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan $4 aut 700 1-
$7 sllk_us_auth*p0037795 $a Li, Meng Xian $u Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan $4 aut 700 1-
$7 sllk_us_auth*p0037770 $a Hsiao, Kwang-Jen $u Institute of Genetics, National Yang-Ming University and Taipei Veterans General Hospital, Taipei, Taiwan $4 aut 700 1-
$7 sllk_us_auth*p0037796 $a Yang, Yanling $u Department of Pediatrics, The First Hospital of Peking University, Beijing, China $4 aut 700 1-
$7 sllk_us_auth*p0037797 $a Lee, Dong-Hwan $u Department of Pediatrics, Soon Chun Hyang University Hospital, Seoul, Korea $4 aut 700 1-
$7 sllk_us_auth*p0037798 $a Saheki, Takeyori $u Institute of Genetics, National Yang-Ming University and Taipei Veterans General Hospital, Taipei, Taiwan $4 aut 711 2-
$7 sllk_us_auth*k0002613 $a Ázijsko-európsky kongres o dedičných metabolických poruchách $e AEWIEM $n (9. : $d 2004 : $c Stará Lesná, Slovensko) 773 0-
$7 nnas $w sllk_us_cat*sg000135_2004_004_009 $t Bratislavské lekárske listy $g Vol. 105, no. 9 (2004), s. 328 $x 0006-9248 $d Bratislava : Slovak Academic Press
Number of the records: 1