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Titolo:
Neonatal presentation of adult-onset type II citrullinemia
Autore:
Ohura, T; Kobayashi, K; Tazawa, Y; Nishi, I; Abukawa, D; Sakamoto, O; Iinuma, K; Saheki, T;
Indirizzi:
Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima 890, Japan Kagoshima Univ Kagoshima Japan 890 d, Dept Biochem, Kagoshima 890, Japan Tottori Univ, Fac Med, Dept Pediat, Yonago, Tottori 683, Japan Tottori Univ Yonago Tottori Japan 683 Pediat, Yonago, Tottori 683, Japan
Titolo Testata:
HUMAN GENETICS
fascicolo: 2, volume: 108, anno: 2001,
pagine: 87 - 90
SICI:
0340-6717(200102)108:2<87:NPOATI>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Ohura, T Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, 1-1 Seiryo Machi, Sendai, Miyagi 9808574, Japan Tohoku Univ 1-1 Seiryo Machi Sendai Miyagi Japan9808574 4, Japan
Citazione:
T. Ohura et al., "Neonatal presentation of adult-onset type II citrullinemia", HUM GENET, 108(2), 2001, pp. 87-90

Abstract

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening. DNA analyses of SLC25A13 revealed that one patient was a compound heterozygote for the 851del4 and IVS11+1G-->A mutations and two patients (siblings) were homozygotes for the IVS11+1G-->A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 in children.

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Documento generato il 05/07/20 alle ore 00:55:56