Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant.
Saved in:
| Title: | Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant. |
|---|---|
| Authors: | Priyadarshini, Prerna1 (AUTHOR) prernapriyadarshinisingh@gmail.com, Verma, Sanjeev Kumar1 (AUTHOR) drsanjeev78@gmail.com, Verma, Manisha1 (AUTHOR) manisha.verma.lko@gmail.coml, Singh, S. N.1 (AUTHOR) snsingh@kgmcindia.edu |
| Source: | Journal of Rare Diseases. 10/10/2025, Vol. 4 Issue 1, p1-5. 5p. |
| Database: | Academic Search Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 188626162 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Priyadarshini%2C+Prerna%22">Priyadarshini, Prerna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> prernapriyadarshinisingh@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Verma%2C+Sanjeev+Kumar%22">Verma, Sanjeev Kumar</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> drsanjeev78@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Verma%2C+Manisha%22">Verma, Manisha</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> manisha.verma.lko@gmail.coml</i><br /><searchLink fieldCode="AR" term="%22Singh%2C+S%2E+N%2E%22">Singh, S. N.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> snsingh@kgmcindia.edu</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Rare+Diseases%22">Journal of Rare Diseases</searchLink>. 10/10/2025, Vol. 4 Issue 1, p1-5. 5p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188626162 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s44162-025-00125-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: Hepatocerebral mitochondrial DNA depletion syndrome due to MPV17 mutation presenting with cholestasis and progressive liver failure in an infant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Priyadarshini, Prerna – PersonEntity: Name: NameFull: Verma, Sanjeev Kumar – PersonEntity: Name: NameFull: Verma, Manisha – PersonEntity: Name: NameFull: Singh, S. N. IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 10 Text: 10/10/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 2731085X Numbering: – Type: volume Value: 4 – Type: issue Value: 1 Titles: – TitleFull: Journal of Rare Diseases Type: main |
| ResultId | 1 |