Literature DB >> 9323570

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.

M Yoshino1, A Nishiyori, Y Koga, Y Mizushima, H Maeshiro, T Inoue, S Izumi, T Hatase, M Yakushiji, H Kato.   

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Year:  1997        PMID： 9323570     DOI： 10.1023/a:1005338812965

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Authors:  S Funghini; A Morrone; E Pasquini; E Zammarchi; M A Donati
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Authors:  Keiji Kurokawa; Tohru Yorifuji; Masahiko Kawai; Toru Momoi; Hironori Nagasaka; Masaki Takayanagi; Keiko Kobayashi; Makoto Yoshino; Tomoki Kosho; Masanori Adachi; Harumi Otsuka; Shigenori Yamamoto; Toshiaki Murata; Akihito Suenaga; Tsutomu Ishii; Kihei Terada; Naoto Shimura; Kohji Kiwaki; Haruo Shintaku; Masaru Yamakawa; Hiroki Nakabayashi; Yosuke Wakutani; Tatsutoshi Nakahata
Journal:  J Hum Genet       Date:  2007-02-20       Impact factor: 3.172
  2 in total

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