Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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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
巻	13
ISSN	1750-1172
発行日	2018-10-1
DOI	10.1186/s13023-018-0908-1
PubMed ID	30285816
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).