| dc.creator |
Cram, David Stephen |
|
| dc.creator |
SANDAL, Gonca |
|
| dc.creator |
Haberle, Johannes |
|
| dc.creator |
Keskin, Ebru Yilmaz |
|
| dc.creator |
Olgac, Asburce |
|
| dc.creator |
Kilic, Mustafa |
|
| dc.creator |
Torun, Deniz |
|
| dc.creator |
Kasapkara, Cigdem Seher |
|
| dc.date |
2020-09-30T21:00:00Z |
|
| dc.date.accessioned |
2021-01-21T09:04:50Z |
|
| dc.date.available |
2021-01-21T09:04:50Z |
|
| dc.identifier |
c2de1d44-a96f-4661-b6f5-0de484579671 |
|
| dc.identifier |
10.1515/jpem-2020-0117 |
|
| dc.identifier |
https://avesis.sdu.edu.tr/publication/details/c2de1d44-a96f-4661-b6f5-0de484579671/oai |
|
| dc.identifier.uri |
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/86817 |
|
| dc.description |
Objectives: Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. |
|
| dc.language |
eng |
|
| dc.rights |
info:eu-repo/semantics/closedAccess |
|
| dc.title |
Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy |
|
| dc.type |
info:eu-repo/semantics/article |
|