| language |
eng
|
| Author |
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
Yamaguchi, Seiji
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
|
| Subject | Urea cycle; UCD; OTC deficiency; Citrullinemia; Argininosuccinic aciduria; Mutation; Prenatal diagnosis; Hyperammonemia
|
| Journal Title |
ORPHANET JOURNAL OF RARE DISEASES
|
| Volume | 13
|
| ISSN | 1750-1172
|
| Published Date | 2018-10-1
|
| DOI | |
| PubMed ID | |
| Publisher | BMC
|
| NII Type |
Journal Article
|
| OAI-PMH Set |
Faculty of Medicine
|
| Remark | Partial funding was availed from the Swiss National Science Foundation (grant 310030_153196 to JH).
|
