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言語
英語
著者
Bijarnia-Mahay Sunita Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Haberle Johannes University Children’s Hospital Zurich and Children’s Research Centre, Steinwiesstr 75, CH-8032, Zurich, Switzerland
Jalan Anil B. Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN), Navi Mumbai, India
Puri Ratna Dua Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Kohli Sudha Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Kudalkar Ketki Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN), Navi Mumbai, India
Rufenacht Veronique University Children’s Hospital Zurich and Children’s Research Centre, Steinwiesstr 75, CH-8032, Zurich, Switzerland
Gupta Deepti Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Maurya Deepshikha Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Verma Jyotsna Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Shigematsu Yosuke Department of Pediatrics, Faculty of Medical Science, University of Fukui, Fukui, Japan
山口 清次
Saxena Renu Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
Verma Ishwar C. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
主題
Urea cycle; UCD; OTC deficiency; Citrullinemia; Argininosuccinic aciduria; Mutation; Prenatal diagnosis; Hyperammonemia
掲載誌名
ORPHANET JOURNAL OF RARE DISEASES
13
ISSN
1750-1172
発行日
2018-10-1
DOI
PubMed ID
出版者
BMC
資料タイプ
学術雑誌論文
部局
医学部
備考
Partial funding was availed from the Swiss National Science Foundation (grant 310030_153196 to JH).