Literature DB >> 33336784

Low-birth-weight infant with Antley-Bixler syndrome-like phenotype caused by POR mutation: a rare case report.

G Imataka1, M Fujisawa, R Kuribayashi, G Ichikawa, Y Watabe, H Suzumura, O Arisaka, S Yoshihara.   

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Year:  2020        PMID： 33336784     DOI： 10.26355/eurrev_202012_23987

Source DB:  PubMed          Journal:  Eur Rev Med Pharmacol Sci        ISSN： 1128-3602            Impact factor:   3.507


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  2 in total

1.  Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

Authors:  Haibo Li; Aman Zhao; Min Xie; Linqi Chen; Haiying Wu; Yiping Shen; Hongying Wang
Journal:  Transl Pediatr       Date:  2021-12

2.  A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.

Authors:  Ruoyi Ishikawa; Takamichi Sugimoto; Takafumi Abe; Narumi Ohno; Taku Tazuma; Mayumi Giga; Hiroyuki Naito; Tomoyuki Kono; Eiichi Nomura; Keiichi Hara; Tohru Yorifuji; Takemori Yamawaki
Journal:  Intern Med       Date:  2021-10-19       Impact factor: 1.282
  2 in total

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