| Title |
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
|
| Creator |
Bijarnia-Mahay Sunita
Haberle Johannes
Jalan Anil B.
Puri Ratna Dua
Kohli Sudha
Kudalkar Ketki
Rufenacht Veronique
Gupta Deepti
Maurya Deepshikha
Verma Jyotsna
Shigematsu Yosuke
Saxena Renu
Verma Ishwar C.
|
| Source Title |
ORPHANET JOURNAL OF RARE DISEASES
|
| Volume | 13 |
| Journal Identifire |
ISSN 1750-1172
|
| Subjects |
Urea cycle; UCD; OTC deficiency; Citrullinemia; Argininosuccinic aciduria; Mutation; Prenatal diagnosis; Hyperammonemia
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
BMC
|
| Date of Issued | 2018-10-1 |
| Access Rights | metadata only access |
| Relation |
[PMID]
30285816
|
| Remark | Partial funding was availed from the Swiss National Science Foundation (grant 310030_153196 to JH). |
