VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review ; volume:19 ; number:1 ; day:30 ; month:12 ; year:2024 ; pages:1-12 ; date:12.2024
Orphanet journal of rare diseases ; 19, Heft 1 (30.12.2024), 1-12, 12.2024
- Creator
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Kafol, Jan
Gnidovec Strazisar, Barbara
Drole Torkar, Ana
Homan, Matjaz
Bertok, Sara
Mlinaric, Matej
Sikonja, Jaka
Kovač, Jernej
Perkovic Benedik, Mirjana
Kersnik Levart, Tanja
Zerjav Tansek, Mojca
Praprotnik, Marina
Battelino, Tadej
Debeljak, Maruša
Groselj, Urh
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-024-03486-2
- URN
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urn:nbn:de:101:1-2503072137274.771563749250
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:29 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kafol, Jan
- Gnidovec Strazisar, Barbara
- Drole Torkar, Ana
- Homan, Matjaz
- Bertok, Sara
- Mlinaric, Matej
- Sikonja, Jaka
- Kovač, Jernej
- Perkovic Benedik, Mirjana
- Kersnik Levart, Tanja
- Zerjav Tansek, Mojca
- Praprotnik, Marina
- Battelino, Tadej
- Debeljak, Maruša
- Groselj, Urh
- SpringerLink (Online service)
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Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
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Coronary Microvascular Dysfunction in Acute Cholestasis-Induced Liver Injury
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction
Quality of life in adults with lymphedema cholestasis syndrome 1
Progressive familial intrahepatic cholestasis
Neonatal cholestasis: recent insights
Intrahepatic cholestasis of pregnancy
Intrahepatic Cholestasis of Pregnancy
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review
Application of metabolomics in intrahepatic cholestasis of pregnancy: a systematic review
Effects of renal transplantation on erectile dysfunction: a systematic review and meta-analysis
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype
Coronary Microvascular Dysfunction in Acute Cholestasis-Induced Liver Injury
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction
Quality of life in adults with lymphedema cholestasis syndrome 1
Progressive familial intrahepatic cholestasis
Neonatal cholestasis: recent insights
Intrahepatic cholestasis of pregnancy
Intrahepatic Cholestasis of Pregnancy
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review
Application of metabolomics in intrahepatic cholestasis of pregnancy: a systematic review