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

ORPHANET JOURNAL OF RARE DISEASES Volume 13 published_at 2018-10-1
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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 ( Other)
Language
eng
Resource Type journal article
Publisher
BMC
Date of Issued 2018-10-1
Access Rights metadata only access
Relation
[DOI] 10.1186/s13023-018-0908-1
[PMID] 30285816
Remark Partial funding was availed from the Swiss National Science Foundation (grant 310030_153196 to JH).